The document describes a new method for sample tracking using plasmid barcodes. Small plasmids are constructed with barcode sequences inserted within a genomic region captured by the sequencing panel. Samples are spiked with different barcoded plasmids prior to sequencing. By mapping the sequencing data to the plasmid references, any potential sample swaps or mix-ups can be detected by observing the expected barcodes. The method provides a cheap and simple way to track samples without additional workflow steps. Testing showed the barcodes are reliably captured and detected in the sequencing data for both exome and amplicon sequencing.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial malformations observed
across the globe. They are classified into three types: (a) cleft palate, (b) cleft lip, and (c) cleft lip and
palate.
The document describes miScript miRNA PCR Arrays for analyzing miRNA expression patterns. It discusses miRNA biogenesis and function, and how the miScript system allows for genome-wide and pathway-focused miRNA analysis using a qPCR-based approach. The miScript arrays offer high reproducibility, sensitivity, and the ability to discover cancer-related and developmentally regulated miRNAs. They can be used to screen focused miRNA panels or conduct genome-wide screens to discover novel miRNA roles.
This document describes reference materials developed by SeraCare Precision Medicine for next generation sequencing applications. It discusses Seraseq tools that provide mutations, aneuploidies, fusions and cell-free DNA references to validate assays. Specifically, it details the Seraseq Solid Tumor Mutation Mixes which contain cancer-related single nucleotide variants and indels down to 1% allele frequency to test assay sensitivity. A prototype cell-free DNA reference material is also described that contains 9 mutations across a 2-log allele frequency range from 5% to 0.1% to validate plasma DNA sequencing.
This document discusses recombinant DNA technology and its applications. It covers key steps like cloning vectors, restriction modification systems, DNA ligases, transformation, and screening cDNA libraries to identify genes. Examples are given of recombinant proteins used as drugs to treat diseases like growth hormone deficiency, diabetes, and hemophilia. The last section briefly discusses genetic modification of animals and plants, and debates around genetically engineered salmon.
The document discusses RNA interference (RNAi) solutions for gene knockdown research. It describes using short interfering RNA (siRNA) and short hairpin RNA (shRNA) to temporarily or permanently suppress gene expression. Challenges of RNAi experiments include off-target effects and variability in knockdown efficiency. The document promotes solutions from QIAGEN, including validated siRNA and shRNA designs with controls, to help optimize RNAi experiments and reduce non-specific effects.
This document discusses using qPCR arrays to screen and validate induced pluripotent stem cells (iPSCs). It describes how iPSCs are created by reprogramming somatic cells, and the need to validate pluripotency. Validation methods discussed include checking for pluripotency biomarkers using qPCR arrays, which allow screening multiple genes from multiple samples simultaneously. The document provides an example of a qBiomarker iPSC screening PCR array, which contains assays for 8 predictive pluripotency biomarkers, a normalization gene, and control wells to screen 8 samples per plate for pluripotent stem cell characterization.
The CRISPR-Cas9 system demonstrates unparalleled genome editing efficiency in a broad range of species and cell types, but it suffers from concerns related to target specificity. Modified guide RNAs and mutant Cas9 proteins have been developed to reduce off-target editing but, in many cases, the alterations also significantly reduce on-target editing performance. In this presentation, Dr Chris Vakulskas discusses a novel, high-fidelity Cas9 protein that reduces off-target gene editing, while maintaining high on-target activity. Dr Vakulskas presents data from the development of the new Alt-R速 S.p. HiFi Cas9 Nuclease 3NLS and describes its usefulness in mitigating unwanted off-target gene editing, without the issues associated with transfection of plasmid DNA.
Lennie Lundervold has over 15 years of experience in sales management, operations leadership, human resources, and military service. She is currently a Dealer Account Manager at Salal Credit Union, where she has exceeded sales goals and helped launch new programs. Previously she held VP roles at LoanTek and PC Home Loans, growing sales and improving customer satisfaction at both companies. She has a proven track record of developing high-performing teams, implementing strategic initiatives, and driving results.
Hendrik Bezuidenhout is an electrician and fitter with over 10 years of experience seeking new employment. He has qualifications including a high school diploma, technical college diplomas, and certificates in areas such as electrotechnology, electrical wiring, crane operation, and PLC programming. His previous roles include electrical and mechanical maintenance roles in manufacturing environments, with responsibilities like installing motor controls, troubleshooting machines, and liaising with customers. He has strong technical skills in electrical systems, hydraulics, pneumatics, and welding.
Este documento describe c坦mo Hadoop y los algoritmos MapReduce pueden aplicarse para paralelizar tareas de genotipado de secuencias nucleot鱈dicas. Explica brevemente MapReduce, Hadoop y HDFS, y luego discute aplicaciones como el mapeo de lecturas en secuenciaci坦n de nueva generaci坦n, el alineamiento m炭ltiple de secuencias y otros algoritmos paralelizables como la obtenci坦n de distancias filogen辿ticas y machine learning.
La hipoteca y la prenda son dos formas de garant鱈a de obligaciones. La hipoteca se ejecuta mediante un procedimiento ordinario si el deudor u otro tercero se opone, mientras que la ejecuci坦n de la prenda permite al deudor o tercero oponerse a la venta dentro de 8 d鱈as e ir a juicio si la oposici坦n est叩 fundamentada legalmente. Tanto para la hipoteca como para la prenda, si no hay oposici坦n el proceso sigue de forma ejecutiva para cobrar la deuda a trav辿s de la venta del bien gravado.
The document discusses strategies for connecting with superfans of a brand through shareable content. It defines superfans as people who are passionate about a brand and enjoy sharing that passion. The goal is to build a community of 100,000 superfans sharing content related to the brand. The strategies discussed include building an immersive experience for superfans that invites them into the brand's world, empowering their creativity, and making sharing content easy in order to amplify buzz around the brand in social media.
CAP Trapper Technologies and Applications, CAP Analysis of Gene Expression (C...Laura Berry
油
Presented at the NGS Tech and Applications Congress: USA. To find out more, visit:
www.global-engage.com
Masayoshi Itoh is a Senior Scientist at the RIKEN Center for Life Science Technologies (CLST) and Coordinator of the RIKEN Preventive Medicine and Diagnostics Innovation Program (PMI). In this presentation Masayoshi introduces CAP trapper technologies and presents the findings of the FANTOM5 project.
The document describes Cignal Lenti Reporter Assays which use lentiviral particles containing pathway-specific reporter constructs to enable signaling studies in difficult to transfect cell types. Key points:
1) Cignal Lenti Reporters contain optimized transcriptional response elements and reporter genes for high performance and sensitivity in signaling studies across 45 pathways.
2) The assays allow transient transduction studies or generation of stable pathway sensor cell lines for both easy and difficult to transfect cell types like primary cells and stem cells.
3) The lentiviral particles are ready to use with no need for viral generation or titering, and the assays provide a complete solution for signaling studies.
Digital RNAseq Technology Introduction: Digital RNAseq Webinar Part 1QIAGEN
油
QIAseq RNA is a revolutionary turnkey solution for digital gene expression analysis by NGS. From 10 genes to 1000, from one sample to 100, QIAseq RNA delivers precise results on both ION and Illumina sequencing platforms. The data from QIAseq RNA is directly comparable to expression analysis derived from whole transcriptome sequencing or by qRTPCR, only better, cheaper, faster, and more flexible. This webinar will describe the principles of digital expression analysis by NGS, and review the features and benefits of the QIAseq system, options available, and the integrated data analysis package.
Validation of Identity and Ancestry
SNP Panels for the Ion PGM
Christopher Phillips, Carla Santos, Maria de la Puente,
Manuel Fondevila, ngel Carracedo, Maviky Lareu
Forensic Genetics Unit,
University of Santiago de Compostela
This document discusses high-throughput DNA sequencing technologies and their application to genome assembly projects. It provides a brief history of DNA sequencing, from early chemical and chain termination methods to current massively parallel sequencing technologies. It also describes several long-read sequencing technologies, including Pacific Biosciences SMRT sequencing and Oxford Nanopore sequencing. Examples are given of genome projects utilizing these technologies along with short-read sequencing data.
This document summarizes Illumina's efforts to generate a population-based structural variant callset using whole genome sequencing data from 3,000-4,000 samples. Key points include using multiple variant callers and population genetics analysis to generate hypotheses about common structural variants, assembling putative deletions to refine breakpoints, developing a graph-based genotyping tool, and validating variants using depth analysis and Mendelian inheritance checks. The goals are to improve consistency and accuracy in calling common structural variants across any sample.
The document discusses Cignal Reporter Assays, which are cell-based assays for analyzing gene expression and signaling pathways. The assays use dual-luciferase technology and transcription factor-targeted response elements to provide sensitive and reproducible measurements of 45 signaling pathways. Key advantages of the assays include minimizing experimental variability through dual-luciferase normalization, increasing signal-to-noise ratio using destabilized and codon-optimized luciferase, and maximizing response using optimized transcriptional response elements tailored to each pathway. The assays are available in multiple formats including plasmid, lentiviral, luciferase and GFP, making them suitable for a variety of experimental systems and applications.
This document summarizes next generation sequencing and bioinformatics analysis pipelines. It discusses the Ion Torrent and Pacific Biosciences sequencing platforms, and provides examples of standard and in-house analysis pipelines for these platforms. It also gives three specific examples of in-house developed pipelines: (1) a local variant database for exome sequencing analysis, (2) de novo genome assembly using long reads from Pacific Biosciences, and (3) a clinical sequencing workflow for detecting mutations in leukemia patients. The document outlines ongoing developments for both sequencing technologies and analysis pipelines.
This document summarizes next generation sequencing and bioinformatics analysis pipelines. It discusses the Ion Torrent and Pacific Biosciences sequencing platforms, and provides examples of standard and in-house analysis pipelines for these platforms. It also gives three specific examples of in-house developed pipelines: (1) a local variant database for exome sequencing analysis, (2) de novo genome assembly using long reads from Pacific Biosciences, and (3) a clinical sequencing workflow for detecting mutations in leukemia patients. The document outlines ongoing developments with the sequencing platforms and analysis methods.
This document provides an overview of DNA microarrays (DNA chips), including:
1. It describes how DNA microarrays work, the basic components and steps involved including manufacturing probes, sample preparation, hybridization, scanning, and data analysis.
2. It discusses the two main types of microarrays - cDNA microarrays produced by robotic spotting and oligonucleotide arrays produced by in situ synthesis.
3. It outlines some of the applications of DNA microarrays including analyzing gene expression, disease classification, toxicogenomics, and more.
Lennie Lundervold has over 15 years of experience in sales management, operations leadership, human resources, and military service. She is currently a Dealer Account Manager at Salal Credit Union, where she has exceeded sales goals and helped launch new programs. Previously she held VP roles at LoanTek and PC Home Loans, growing sales and improving customer satisfaction at both companies. She has a proven track record of developing high-performing teams, implementing strategic initiatives, and driving results.
Hendrik Bezuidenhout is an electrician and fitter with over 10 years of experience seeking new employment. He has qualifications including a high school diploma, technical college diplomas, and certificates in areas such as electrotechnology, electrical wiring, crane operation, and PLC programming. His previous roles include electrical and mechanical maintenance roles in manufacturing environments, with responsibilities like installing motor controls, troubleshooting machines, and liaising with customers. He has strong technical skills in electrical systems, hydraulics, pneumatics, and welding.
Este documento describe c坦mo Hadoop y los algoritmos MapReduce pueden aplicarse para paralelizar tareas de genotipado de secuencias nucleot鱈dicas. Explica brevemente MapReduce, Hadoop y HDFS, y luego discute aplicaciones como el mapeo de lecturas en secuenciaci坦n de nueva generaci坦n, el alineamiento m炭ltiple de secuencias y otros algoritmos paralelizables como la obtenci坦n de distancias filogen辿ticas y machine learning.
La hipoteca y la prenda son dos formas de garant鱈a de obligaciones. La hipoteca se ejecuta mediante un procedimiento ordinario si el deudor u otro tercero se opone, mientras que la ejecuci坦n de la prenda permite al deudor o tercero oponerse a la venta dentro de 8 d鱈as e ir a juicio si la oposici坦n est叩 fundamentada legalmente. Tanto para la hipoteca como para la prenda, si no hay oposici坦n el proceso sigue de forma ejecutiva para cobrar la deuda a trav辿s de la venta del bien gravado.
The document discusses strategies for connecting with superfans of a brand through shareable content. It defines superfans as people who are passionate about a brand and enjoy sharing that passion. The goal is to build a community of 100,000 superfans sharing content related to the brand. The strategies discussed include building an immersive experience for superfans that invites them into the brand's world, empowering their creativity, and making sharing content easy in order to amplify buzz around the brand in social media.
CAP Trapper Technologies and Applications, CAP Analysis of Gene Expression (C...Laura Berry
油
Presented at the NGS Tech and Applications Congress: USA. To find out more, visit:
www.global-engage.com
Masayoshi Itoh is a Senior Scientist at the RIKEN Center for Life Science Technologies (CLST) and Coordinator of the RIKEN Preventive Medicine and Diagnostics Innovation Program (PMI). In this presentation Masayoshi introduces CAP trapper technologies and presents the findings of the FANTOM5 project.
The document describes Cignal Lenti Reporter Assays which use lentiviral particles containing pathway-specific reporter constructs to enable signaling studies in difficult to transfect cell types. Key points:
1) Cignal Lenti Reporters contain optimized transcriptional response elements and reporter genes for high performance and sensitivity in signaling studies across 45 pathways.
2) The assays allow transient transduction studies or generation of stable pathway sensor cell lines for both easy and difficult to transfect cell types like primary cells and stem cells.
3) The lentiviral particles are ready to use with no need for viral generation or titering, and the assays provide a complete solution for signaling studies.
Digital RNAseq Technology Introduction: Digital RNAseq Webinar Part 1QIAGEN
油
QIAseq RNA is a revolutionary turnkey solution for digital gene expression analysis by NGS. From 10 genes to 1000, from one sample to 100, QIAseq RNA delivers precise results on both ION and Illumina sequencing platforms. The data from QIAseq RNA is directly comparable to expression analysis derived from whole transcriptome sequencing or by qRTPCR, only better, cheaper, faster, and more flexible. This webinar will describe the principles of digital expression analysis by NGS, and review the features and benefits of the QIAseq system, options available, and the integrated data analysis package.
Validation of Identity and Ancestry
SNP Panels for the Ion PGM
Christopher Phillips, Carla Santos, Maria de la Puente,
Manuel Fondevila, ngel Carracedo, Maviky Lareu
Forensic Genetics Unit,
University of Santiago de Compostela
This document discusses high-throughput DNA sequencing technologies and their application to genome assembly projects. It provides a brief history of DNA sequencing, from early chemical and chain termination methods to current massively parallel sequencing technologies. It also describes several long-read sequencing technologies, including Pacific Biosciences SMRT sequencing and Oxford Nanopore sequencing. Examples are given of genome projects utilizing these technologies along with short-read sequencing data.
This document summarizes Illumina's efforts to generate a population-based structural variant callset using whole genome sequencing data from 3,000-4,000 samples. Key points include using multiple variant callers and population genetics analysis to generate hypotheses about common structural variants, assembling putative deletions to refine breakpoints, developing a graph-based genotyping tool, and validating variants using depth analysis and Mendelian inheritance checks. The goals are to improve consistency and accuracy in calling common structural variants across any sample.
The document discusses Cignal Reporter Assays, which are cell-based assays for analyzing gene expression and signaling pathways. The assays use dual-luciferase technology and transcription factor-targeted response elements to provide sensitive and reproducible measurements of 45 signaling pathways. Key advantages of the assays include minimizing experimental variability through dual-luciferase normalization, increasing signal-to-noise ratio using destabilized and codon-optimized luciferase, and maximizing response using optimized transcriptional response elements tailored to each pathway. The assays are available in multiple formats including plasmid, lentiviral, luciferase and GFP, making them suitable for a variety of experimental systems and applications.
This document summarizes next generation sequencing and bioinformatics analysis pipelines. It discusses the Ion Torrent and Pacific Biosciences sequencing platforms, and provides examples of standard and in-house analysis pipelines for these platforms. It also gives three specific examples of in-house developed pipelines: (1) a local variant database for exome sequencing analysis, (2) de novo genome assembly using long reads from Pacific Biosciences, and (3) a clinical sequencing workflow for detecting mutations in leukemia patients. The document outlines ongoing developments for both sequencing technologies and analysis pipelines.
This document summarizes next generation sequencing and bioinformatics analysis pipelines. It discusses the Ion Torrent and Pacific Biosciences sequencing platforms, and provides examples of standard and in-house analysis pipelines for these platforms. It also gives three specific examples of in-house developed pipelines: (1) a local variant database for exome sequencing analysis, (2) de novo genome assembly using long reads from Pacific Biosciences, and (3) a clinical sequencing workflow for detecting mutations in leukemia patients. The document outlines ongoing developments with the sequencing platforms and analysis methods.
This document provides an overview of DNA microarrays (DNA chips), including:
1. It describes how DNA microarrays work, the basic components and steps involved including manufacturing probes, sample preparation, hybridization, scanning, and data analysis.
2. It discusses the two main types of microarrays - cDNA microarrays produced by robotic spotting and oligonucleotide arrays produced by in situ synthesis.
3. It outlines some of the applications of DNA microarrays including analyzing gene expression, disease classification, toxicogenomics, and more.
This document summarizes the work of Hans Jansen and Christiaan Henkel with long read nanopore sequencing. They have sequenced several genomes including carp, eel, king cobra, and Agrobacterium using MinION. Their longest reads were 120 kbp and 93.5 kbp. They also established the MinION Access Program to improve genomes by resolving repeats. As part of this, they formed the MinION Analysis and Reference Consortium to standardize protocols and understand variability between labs. Their work with the E. coli genome demonstrated sources of variation in read counts, lengths, and alignments between labs.
The document discusses DNA microarrays, including their applications, history, major steps, methods of construction, and technical issues. DNA microarrays allow analysis of gene expression across thousands of genes simultaneously. They have been used since the 1990s and are constructed by attaching DNA probes to a solid surface in a high-density array. Two main types are cDNA-based microarrays using amplified cDNA and oligonucleotide-based arrays like Affymetrix GeneChips containing short DNA sequences.
Part 2 of RNA-seq for DE analysis: Investigating raw dataJoachim Jacob
油
Second part of the training session 'RNA-seq for Differential expression' analysis. We explain the characteristics of RNA-seq data that allow us to detect differential expression. Interested in following this session? Please contact http://www.jakonix.be/contact.html
The document discusses marker-assisted breeding and the services provided by the Sequencing and Genotyping Platform. It outlines the steps in marker-assisted selection, from laying out seedlings and collecting samples to running analyses. It also lists the facilities and equipment available, including robotic platforms for liquid handling and DNA/RNA extraction, real-time PCR systems, capillary sequencers, and Illumina platforms for high-throughput genotyping. The platform provides support for marker-assisted breeding programs through services like whole genome sequencing, targeted resequencing, and protocol development for next-generation sequencing applications.
The document describes creating a SNP calling pipeline for potato data from RNA-Seq experiments. Key steps included aligning reads to the potato genome using BWA or Bowtie, converting SAM to BAM and sorting, generating coverage profiles with SAMtools, and calling SNPs from the BAM files using SAMtools and bcftools. SNPs identified from the RNA-Seq data were then selected for inclusion on an Illumina GoldenGate SNP chip to genotype samples for genetic mapping. Comparison of the SNP chip results to the original RNA-Seq data was performed to evaluate accuracy. Remaining questions around discrepancies in the data were noted for further investigation.
DNA microarrays allow scientists to analyze thousands of genes simultaneously. They work by attaching DNA probes to a plate to measure gene expression levels in different samples. The process involves isolating mRNA from samples, converting it to labeled cDNA, hybridizing it to the microarray plate, and scanning the plate to analyze gene expression differences between samples. Microarrays have benefits like speed and analyzing many genes at once, though they also produce large amounts of data to analyze. Future uses include disease diagnosis, pharmacogenomics, and toxicogenomics research.
New Technologies at the Center for Bioinformatics & Functional Genomics at Mi...Andor Kiss
油
A review of recent molecular biology technologies at the core genomics facility at Miami University (Ohio). The aim of this talk is to introduce the facility's capabilities to faculty, graduate and undergraduate students at MiamiU.
How could modern LA research address data-related ethics issues in informal and situated professional learning? I will identify in this talk three relevant insights based on field studies around workplace LA interventions: Firstly, in informal and situated learning, data isnt just about the learners. Secondly, the affordances of manual and automatic data tracking for learning are very different, with manual tracking allowing a high degree of learner control over data. Thirdly, learning is not necessarily a shared goal in workplaces. These can be translated into seeing a potential for systems endowed with sufficient natural-language-processing capability (now seemingly at our fingertips with LLMs), and socio-technical design and scenario-based data collection analysis as design and research methods.
The Solar Systems passage through the Radcliffe wave during the middle MioceneS辿rgio Sacani
油
As the Solar System orbits the Milky Way, it encounters various Galactic environments, including dense regions of the
interstellar medium (ISM). These encounters can compress the heliosphere, exposing parts of the Solar System to the ISM, while also
increasing the influx of interstellar dust into the Solar System and Earths atmosphere. The discovery of new Galactic structures, such
as the Radcliffe wave, raises the question of whether the Sun has encountered any of them.
Aims. The present study investigates the potential passage of the Solar System through the Radcliffe wave gas structure over the past
30 million years (Myr).
Methods. We used a sample of 56 high-quality, young (30 Myr) open clusters associated with a region of interest of the Radcliffe
wave to trace its motion back and investigate a potential crossing with the Solar Systems past orbit.
Results. We find that the Solar Systems trajectory intersected the Radcliffe wave in the Orion region. We have constrained the timing
of this event to between 18.2 and 11.5 Myr ago, with the closest approach occurring between 14.8 and 12.4 Myr ago. Notably, this
period coincides with the Middle Miocene climate transition on Earth, providing an interdisciplinary link with paleoclimatology. The
potential impact of the crossing of the Radcliffe wave on the climate on Earth is estimated. This crossing could also lead to anomalies
in radionuclide abundances, which is an important research topic in the field of geology and nuclear astrophysics.
History of atomic layer deposition (ALD) in a nutshellRiikka Puurunen
油
Lecture slides presented at Aalto University course CHEM-E5175 Materials engineering by thin films (by Prof. Ville Miikkulainen), in a visiting lecture Jan 28, 2025
Contents:
1 Invention of Atomic Layer Epitaxy 1974
2 Microchemistry Ltd and spread of ALE/ALD
3 Independent invention, Molecular Layering 1960s -->
4 Connecting the two independent development branches of ALD
5 Take-home message
(Extra materials on fundamentals of ALD, assumed as background knowledge)
際際滷Share: /slideshow/history-of-atomic-layer-deposition-ald-in-a-nutshell/275984811
Youtube: https://youtu.be/FBLThDjRff0
(February 25th, 2025) Real-Time Insights into Cardiothoracic Research with In...Scintica Instrumentation
油
s a major gap - these methods can't fully capture how cells behave in a living, breathing system.
That's where Intravital Microscopy (IVM) comes in. This powerful imaging technology allows researchers to see cellular activity in real-time, with incredible clarity and precision.
But imaging the heart and lungs presents a unique challenge. These organs are constantly in motion, making real-time visualization tricky. Thankfully, groundbreaking advances - like vacuum-based stabilization and motion compensation algorithms - are making high-resolution imaging of these moving structures a reality.
What You'll Gain from This Webinar:
- New Scientific Insights See how IVM is transforming our understanding of immune cell movement in the lungs, cellular changes in heart disease, and more.
- Advanced Imaging Solutions Discover the latest stabilization techniques that make it possible to capture clear, detailed images of beating hearts and expanding lungs.
- Real-World Applications Learn how these innovations are driving major breakthroughs in cardiovascular and pulmonary research, with direct implications for disease treatment and drug development.
- Live Expert Discussion Connect with experts and get answers to your biggest questions about in vivo imaging.
This is your chance to explore how cutting-edge imaging is revolutionizing cardiothoracic research - shedding light on disease mechanisms, immune responses, and new therapeutic possibilities.
- Register now and stay ahead of the curve in in vivo imaging!
Coordination and Response: The Nervous System | IGCSE BiologyBlessing Ndazie
油
This comprehensive IGCSE Biology presentation explains the nervous system, focusing on how the body coordinates and responds to stimuli. Learn about the central and peripheral nervous systems, reflex actions, neurons, synapses, and the role of neurotransmitters. Understand the differences between voluntary and involuntary responses and how the nervous system interacts with other body systems. Ideal for Cambridge IGCSE students preparing for exams!
Excretion in Humans | Cambridge IGCSE BiologyBlessing Ndazie
油
This IGCSE Biology presentation covers excretion in humans, explaining the removal of metabolic wastes such as carbon dioxide, urea, and excess salts. Learn about the structure and function of the kidneys, the role of the liver in excretion, ultrafiltration, selective reabsorption, and the importance of homeostasis. Includes diagrams and explanations to help Cambridge IGCSE students prepare effectively for exams!
This ppt shows about viral disease in plants and vegetables.It shows different species of virus effect on plants along their vectors which carries those tiny microbes.
Respiration & Gas Exchange | Cambridge IGCSE BiologyBlessing Ndazie
油
This IGCSE Biology presentation explains respiration and gas exchange, covering the differences between aerobic and anaerobic respiration, the structure of the respiratory system, gas exchange in the lungs, and the role of diffusion. Learn about the effects of exercise on breathing, how smoking affects the lungs, and how respiration provides energy for cells. A perfect study resource for Cambridge IGCSE students preparing for exams!
Drugs and Their Effects | Cambridge IGCSE BiologyBlessing Ndazie
油
This IGCSE Biology presentation explores drugs and their effects on the human body, covering medicinal drugs, recreational drugs, and drug abuse. Learn about the impact of stimulants, depressants, painkillers, hallucinogens, and performance-enhancing drugs, as well as the dangers of alcohol, nicotine, and illegal substances. Ideal for Cambridge IGCSE students looking to understand this important topic for exams!
In vitro means production in a test tube or other similar vessel where culture conditions and medium are controlled for optimum growth during tissue culture.
It is a critical step in plant tissue culture where roots are induced and developed from plant explants in a controlled, sterile environment.
際際滷 include factors affecting In-vitro Rooting, steps involved, stages and In vitro rooting of the two genotypes of Argania Spinosa in different culture media.
2. 2息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
We regularly do clinical diagnosis
3. 3息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
ENAC Acreditation
Asked for:
- The ENAC acreditation of
NextGeneDX (amplicon)
analysis.
- The ENAC acreditation of
clinical exome analysis
4. 4息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
But we had an Issue: sample
traceability
We until that moment did not traced back our samples from the
VCF file to the DNA used for NGS.
ENAC wisely asked to have biological sample tracking enabled
in our lab (LIMS is not enough).
Resulting
Genotype
Blood
stock
DNA
dilution
SequencingWet lab
5. 5息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
But we had an issue: sample
traceability
We until that moment did not traced back our samples from the
VCF file to the DNA used for NGS.
ENAC wisely asked to have biological sample tracking enabled
in our lab (LIMS is not enough).
Resulting
Genotype
Blood
stock
DNA
dilution
SequencingWet lab
7. 7息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
Which options do we have?
SNPs 油in 油Introns
Sequenom: 油賊24 油SNPs 油in 油
pangenomic regions.
SNPs 油in 油Exons 油Capture
KASP: 油exonic SNPs in regions used
in capture methods
Ampliseq
STRs 油or 油indels
8. 8息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
Are 油any 油of 油these 油suitable 油
for 油us?
Which options do we have?
9. 9息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
Choose 油SNPs 油in 油the 油region 油of 油
the 油capture 油probes. 油
SNPs 油in 油Introns
Sequenom: 油賊52 油SNPs, 油some 油
in 油introns.
SNPs 油in 油Exons 油Capture
KASP: 油exonic SNPs in regions
used in capture methods
Ampliseq
10. 10息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
Choose 油SNPs 油in 油the 油region 油of 油
the 油capture 油probes. 油
SNPs 油in 油Introns
Sequenom: 油賊52 油SNPs, 油some 油
in 油introns
SNPs 油in 油Exons 油Capture
KASP: 油exonic SNPs in regions
used in capture methods
Ampliseq
11. 11息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
STRs or Indels
We dont have a Sequenom, why dont use STRs (Single
Tandem Repeats) or indels and check with fragment length
analysis?
12. 12息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
STRs or Indels
We dont have a Sequenom, why dont use STRs (Single
Tandem Repeats) or indels and check with fragment length
analysis?
13. 13息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
-足 Expensive
Disadvantages
14. 14息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
-足 Expensive
-足 Time 油Consuming
Disadvantages
15. 15息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
-足 Expensive
-足 Time 油Consuming
-足 Extra 油steps 油for 油our 油pipeline 油
(genotyping)
Disadvantages
16. 16息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
These 油are 油for 油tracking 油sample 油identity 油across 油
multiple 油experiments. 油
Disadvantages
17. 17息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
These 油are 油for 油tracking 油Sample 油identity 油across 油
multiple 油experiments. 油
This 油methods 油are 油not 油suitable 油for 油amplicon
sequencing, 油without 油needing 油to 油do 油another 油
genotyping 油step. 油
Disadvantages
18. 18息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
Two 油weeks 油of 油thinking
and 油lots 油of 油coffee
breaks 油brain 油storming
But, 油is 油there 油a 油cheaper 油way 油to 油
do 油this?
20. 20息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
Lets 油think 油again....
We 油have 油two 油workflows:
Exoma capture
Amplicons (Nextera after 油PCR)
21. 21息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
Sample Tracking with Plasmids
We can build a plasmid whose
insert is a region of a gene
with a probe in TruSight One
and add some barcodes in the
middle of the sequence.
PCR primers in both ends of
the sequence.
22. 22息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
Sample Tracking with Plasmids
We can build a plasmid whose
insert is a region of a gene
with a probe in TruSight One
and add some barcodes in the
middle of the sequence.
PCR primers in both ends of
the sequence.
This method should work
for both workflows!
24. 24息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
Which 油one 油to 油use?
We 油are 油not 油reporting 油3-足UTR miRNA
target 油sites still 油has 油unclear 油diagnostic 油
significance 油except 油for 油very 油specific 油
cases.
Selecting 油the 油region 油of 油interest
TMEM-足135 油3UTR 油(800x)
25. 25息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
Building the plasmid
All tubes of NextGenDX amplicons
would have a sequence with NGS
adapters so all tubes would report
this barcode
The 油barcode 油would 油be 油also 油captured 油
and 油sequenced 油by 油TSO
STID:0204
26. 26息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
Building the plasmid
CP-足N701
acgtaccgtagaactagcgactgcCATTGGTGCCAGCTCTAT
AATTTCTTCTTCTTGTGGAATTAACAAAGAAAGGAG
TGTCAAGGACTGAGATGACCCTCAGATTGGGGGG
CTGTCTTAGATTCTAGGGCTTTGTAGTACTATGTTT
CTGTTTAAAGTAGTGGCCTCAGGTGACTTTGTAAT
AGCCCTGTAGTTGCAAAAAGGTCGCCTTAGTAACT
ACAAAGAAATGAAACTGACTCTAGTGTGTGTGACT
TCTGGAAACAGAAGTGGGGCAGTAAGTTGGCCAT
GATATAGCTAGTGTCATAGGACTACAGCAGAGTAG
TGAGTGAATGGCCTTAAGCTTACAGCTGTGGTGAA
TAAGAATGTGTGCTATTTTACACACAGAAGAATggat
cttcgattccatctgactgt
27. 27息 2016 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
Testing concentrations
Exome Amplicon
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Results
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Amplicon test
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Exome test
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Expected results
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No plasmid added into sample
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Sample Swap
35. 35
Conclusions
We have build a new, cheap and relatively simple
technique for sample tracking.
This technique does not require extra lab steps so that
the protocol wont take any longer.
The sample tracking information is in the output data, so
when evaluating the results, we can evaluate if sample
swap has occurred.
36. 36息 2015 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.
37. Instituto de Medicina Gen坦mica SL
Agust鱈n Escardino 9,
Parc Cient鱈fic de la Universitat de Val竪ncia
46980 Paterna (Valencia, Espa単a)
+34 963 212 340
Imegen.es
息 2015 IMEGEN Informaci坦n confidencial. Todos los derechos reservados.