ºÝºÝߣshows by User: mehisp / http://www.slideshare.net/images/logo.gif ºÝºÝߣshows by User: mehisp / Thu, 16 Nov 2017 05:57:58 GMT ºÝºÝߣShare feed for ºÝºÝߣshows by User: mehisp Rare events or not i want to know about them /slideshow/rare-events-or-not-i-want-to-know-about-them/82142705 rareeventsornotiwanttoknowaboutthem-171116055759
Clinical exome sequencing studies produce diagnostic yields in approximately 30% of hereditary disease cases. As also demonstrated, a re-analysis of exome data helps explain previously inconclusive data. Increased diagnostic yields are usually attributed to either novel disease-gene associations, better parental data, resequencing of patient samples or updated variant interpretation (summarized here). One more important factor, however, contributes to resolving previously unexplained cases – genomics software. This article provides an example how independently-developed novel genomics tools can improve diagnostic yields in hereditary disease. ]]>
Clinical exome sequencing studies produce diagnostic yields in approximately 30% of hereditary disease cases. As also demonstrated, a re-analysis of exome data helps explain previously inconclusive data. Increased diagnostic yields are usually attributed to either novel disease-gene associations, better parental data, resequencing of patient samples or updated variant interpretation (summarized here). One more important factor, however, contributes to resolving previously unexplained cases – genomics software. This article provides an example how independently-developed novel genomics tools can improve diagnostic yields in hereditary disease. ]]> Thu, 16 Nov 2017 05:57:58 GMT /slideshow/rare-events-or-not-i-want-to-know-about-them/82142705 mehisp@slideshare.net(mehisp) Rare events or not i want to know about them mehisp Clinical exome sequencing studies produce diagnostic yields in approximately 30% of hereditary disease cases. As also demonstrated, a re-analysis of exome data helps explain previously inconclusive data. Increased diagnostic yields are usually attributed to either novel disease-gene associations, better parental data, resequencing of patient samples or updated variant interpretation (summarized here). One more important factor, however, contributes to resolving previously unexplained cases – genomics software. This article provides an example how independently-developed novel genomics tools can improve diagnostic yields in hereditary disease. <img style="border:1px solid #C3E6D8;float:right;" alt="" src="https://cdn.slidesharecdn.com/ss_thumbnails/rareeventsornotiwanttoknowaboutthem-171116055759-thumbnail.jpg?width=120&amp;height=120&amp;fit=bounds" /><br> Clinical exome sequencing studies produce diagnostic yields in approximately 30% of hereditary disease cases. As also demonstrated, a re-analysis of exome data helps explain previously inconclusive data. Increased diagnostic yields are usually attributed to either novel disease-gene associations, better parental data, resequencing of patient samples or updated variant interpretation (summarized here). One more important factor, however, contributes to resolving previously unexplained cases – genomics software. This article provides an example how independently-developed novel genomics tools can improve diagnostic yields in hereditary disease.
Rare events or not i want to know about them from Mehis Pold
]]> 210 2 https://cdn.slidesharecdn.com/ss_thumbnails/rareeventsornotiwanttoknowaboutthem-171116055759-thumbnail.jpg?width=120&height=120&fit=bounds document Black http://activitystrea.ms/schema/1.0/post http://activitystrea.ms/schema/1.0/posted 0 COSMIC ALK-FUSIONS /slideshow/cosmic-alkfusions/58615342 cosmcalk-fusions-160223160703
Exon 20 of ALK is the hotspot of breakpoints on ALK-gene giving rise to ALK-fusions with a number of genes. The ALK-partners in ALK-fusions are unrelated to ALK but can be closely related to one another, structurally and functionally.]]>
Exon 20 of ALK is the hotspot of breakpoints on ALK-gene giving rise to ALK-fusions with a number of genes. The ALK-partners in ALK-fusions are unrelated to ALK but can be closely related to one another, structurally and functionally.]]> Tue, 23 Feb 2016 16:07:03 GMT /slideshow/cosmic-alkfusions/58615342 mehisp@slideshare.net(mehisp) COSMIC ALK-FUSIONS mehisp Exon 20 of ALK is the hotspot of breakpoints on ALK-gene giving rise to ALK-fusions with a number of genes. The ALK-partners in ALK-fusions are unrelated to ALK but can be closely related to one another, structurally and functionally. <img style="border:1px solid #C3E6D8;float:right;" alt="" src="https://cdn.slidesharecdn.com/ss_thumbnails/cosmcalk-fusions-160223160703-thumbnail.jpg?width=120&amp;height=120&amp;fit=bounds" /><br> Exon 20 of ALK is the hotspot of breakpoints on ALK-gene giving rise to ALK-fusions with a number of genes. The ALK-partners in ALK-fusions are unrelated to ALK but can be closely related to one another, structurally and functionally.
COSMIC ALK-FUSIONS from Mehis Pold
]]> 354 4 https://cdn.slidesharecdn.com/ss_thumbnails/cosmcalk-fusions-160223160703-thumbnail.jpg?width=120&height=120&fit=bounds presentation 000000 http://activitystrea.ms/schema/1.0/post http://activitystrea.ms/schema/1.0/posted 0 Hidden value in medical genetics databases. Splice the silence! /slideshow/hidden-value-in-medical-genetics-databases/36301815 hiddenvalueinmedicalgeneticsdatabases-140625130227-phpapp01
Silent mutations in medical genetics databases like ClinVar contain extra value if analyzed with the most current genomics tools. In most cases the silent mutations are of low priority in big data genomics analysis, unless additional value like them being found at functionally important DNA sequences accompanies them. This presentation describes a method to add value to the silent mutations in human exome. Specifically, mapping variants, including silent variants to the known exon-intron boundaries identifies the silent mutations whose potential as pathogenic would otherwise be a lot more unclear.]]>
Silent mutations in medical genetics databases like ClinVar contain extra value if analyzed with the most current genomics tools. In most cases the silent mutations are of low priority in big data genomics analysis, unless additional value like them being found at functionally important DNA sequences accompanies them. This presentation describes a method to add value to the silent mutations in human exome. Specifically, mapping variants, including silent variants to the known exon-intron boundaries identifies the silent mutations whose potential as pathogenic would otherwise be a lot more unclear.]]> Wed, 25 Jun 2014 13:02:27 GMT /slideshow/hidden-value-in-medical-genetics-databases/36301815 mehisp@slideshare.net(mehisp) Hidden value in medical genetics databases. Splice the silence! mehisp Silent mutations in medical genetics databases like ClinVar contain extra value if analyzed with the most current genomics tools. In most cases the silent mutations are of low priority in big data genomics analysis, unless additional value like them being found at functionally important DNA sequences accompanies them. This presentation describes a method to add value to the silent mutations in human exome. Specifically, mapping variants, including silent variants to the known exon-intron boundaries identifies the silent mutations whose potential as pathogenic would otherwise be a lot more unclear. <img style="border:1px solid #C3E6D8;float:right;" alt="" src="https://cdn.slidesharecdn.com/ss_thumbnails/hiddenvalueinmedicalgeneticsdatabases-140625130227-phpapp01-thumbnail.jpg?width=120&amp;height=120&amp;fit=bounds" /><br> Silent mutations in medical genetics databases like ClinVar contain extra value if analyzed with the most current genomics tools. In most cases the silent mutations are of low priority in big data genomics analysis, unless additional value like them being found at functionally important DNA sequences accompanies them. This presentation describes a method to add value to the silent mutations in human exome. Specifically, mapping variants, including silent variants to the known exon-intron boundaries identifies the silent mutations whose potential as pathogenic would otherwise be a lot more unclear.
Hidden value in medical genetics databases. Splice the silence! from Mehis Pold
]]> 1458 5 https://cdn.slidesharecdn.com/ss_thumbnails/hiddenvalueinmedicalgeneticsdatabases-140625130227-phpapp01-thumbnail.jpg?width=120&height=120&fit=bounds document 000000 http://activitystrea.ms/schema/1.0/post http://activitystrea.ms/schema/1.0/posted 0 Why do the silent mutations matter? /slideshow/why-do-the-silent-mutation-matter/36045626 whydothesilentmutationmatter-140618215559-phpapp01
An innovative method to add value to the silent mutations in cancer]]>
An innovative method to add value to the silent mutations in cancer]]> Wed, 18 Jun 2014 21:55:59 GMT /slideshow/why-do-the-silent-mutation-matter/36045626 mehisp@slideshare.net(mehisp) Why do the silent mutations matter? mehisp An innovative method to add value to the silent mutations in cancer <img style="border:1px solid #C3E6D8;float:right;" alt="" src="https://cdn.slidesharecdn.com/ss_thumbnails/whydothesilentmutationmatter-140618215559-phpapp01-thumbnail.jpg?width=120&amp;height=120&amp;fit=bounds" /><br> An innovative method to add value to the silent mutations in cancer
Why do the silent mutations matter? from Mehis Pold
]]> 602 2 https://cdn.slidesharecdn.com/ss_thumbnails/whydothesilentmutationmatter-140618215559-phpapp01-thumbnail.jpg?width=120&height=120&fit=bounds document White http://activitystrea.ms/schema/1.0/post http://activitystrea.ms/schema/1.0/posted 0 Development of multivariate classifiers in cancer /slideshow/development-of-multivariate-classifiers-in-cancer/27445553 developmentofmultivariateclassifiersincancer-131022055111-phpapp01
Short presentation about development of multivariate classifiers to predict chemotherapy treatment responses in breast cancer. The steps of workflow are briefly described and the results indicate that expression data on micro-RNA in breast cancer alone are not sufficient to predict treatment responses. ]]>
Short presentation about development of multivariate classifiers to predict chemotherapy treatment responses in breast cancer. The steps of workflow are briefly described and the results indicate that expression data on micro-RNA in breast cancer alone are not sufficient to predict treatment responses. ]]> Tue, 22 Oct 2013 05:51:11 GMT /slideshow/development-of-multivariate-classifiers-in-cancer/27445553 mehisp@slideshare.net(mehisp) Development of multivariate classifiers in cancer mehisp Short presentation about development of multivariate classifiers to predict chemotherapy treatment responses in breast cancer. The steps of workflow are briefly described and the results indicate that expression data on micro-RNA in breast cancer alone are not sufficient to predict treatment responses. <img style="border:1px solid #C3E6D8;float:right;" alt="" src="https://cdn.slidesharecdn.com/ss_thumbnails/developmentofmultivariateclassifiersincancer-131022055111-phpapp01-thumbnail.jpg?width=120&amp;height=120&amp;fit=bounds" /><br> Short presentation about development of multivariate classifiers to predict chemotherapy treatment responses in breast cancer. The steps of workflow are briefly described and the results indicate that expression data on micro-RNA in breast cancer alone are not sufficient to predict treatment responses.
Development of multivariate classifiers in cancer from Mehis Pold
]]> 576 3 https://cdn.slidesharecdn.com/ss_thumbnails/developmentofmultivariateclassifiersincancer-131022055111-phpapp01-thumbnail.jpg?width=120&height=120&fit=bounds presentation 000000 http://activitystrea.ms/schema/1.0/post http://activitystrea.ms/schema/1.0/posted 0 Art Of Breast Cancer /slideshow/art-of-breast-cancer-5021113/5021113 artofbreastcancer-12823314574525-phpapp01
ART3, frequently overexpressed in triple negative breast cancer, is a novel diagnostic marker candidate for aggressive, poor prognosis breast cancer]]>
ART3, frequently overexpressed in triple negative breast cancer, is a novel diagnostic marker candidate for aggressive, poor prognosis breast cancer]]> Fri, 20 Aug 2010 14:14:28 GMT /slideshow/art-of-breast-cancer-5021113/5021113 mehisp@slideshare.net(mehisp) Art Of Breast Cancer mehisp ART3, frequently overexpressed in triple negative breast cancer, is a novel diagnostic marker candidate for aggressive, poor prognosis breast cancer <img style="border:1px solid #C3E6D8;float:right;" alt="" src="https://cdn.slidesharecdn.com/ss_thumbnails/artofbreastcancer-12823314574525-phpapp01-thumbnail.jpg?width=120&amp;height=120&amp;fit=bounds" /><br> ART3, frequently overexpressed in triple negative breast cancer, is a novel diagnostic marker candidate for aggressive, poor prognosis breast cancer
Art Of Breast Cancer from Mehis Pold
]]> 253 4 https://cdn.slidesharecdn.com/ss_thumbnails/artofbreastcancer-12823314574525-phpapp01-thumbnail.jpg?width=120&height=120&fit=bounds presentation Black http://activitystrea.ms/schema/1.0/post http://activitystrea.ms/schema/1.0/posted 0 Endometriosis gene-expression, meta-analysis /slideshow/endometriosis-gene-express-meta-analysis/4930206 endometriosisgeneexpressmetaanalysis-12813787791997-phpapp01
Higher order of endometriosis gene-expression, chromosome 1q significantly contributes to endometriosis specific gene-expression, meta-analysis of three (3)independent endometriosis studies]]>
Higher order of endometriosis gene-expression, chromosome 1q significantly contributes to endometriosis specific gene-expression, meta-analysis of three (3)independent endometriosis studies]]> Mon, 09 Aug 2010 13:38:05 GMT /slideshow/endometriosis-gene-express-meta-analysis/4930206 mehisp@slideshare.net(mehisp) Endometriosis gene-expression, meta-analysis mehisp Higher order of endometriosis gene-expression, chromosome 1q significantly contributes to endometriosis specific gene-expression, meta-analysis of three (3)independent endometriosis studies <img style="border:1px solid #C3E6D8;float:right;" alt="" src="https://cdn.slidesharecdn.com/ss_thumbnails/endometriosisgeneexpressmetaanalysis-12813787791997-phpapp01-thumbnail.jpg?width=120&amp;height=120&amp;fit=bounds" /><br> Higher order of endometriosis gene-expression, chromosome 1q significantly contributes to endometriosis specific gene-expression, meta-analysis of three (3)independent endometriosis studies
Endometriosis gene-expression, meta-analysis from Mehis Pold
]]> 614 4 https://cdn.slidesharecdn.com/ss_thumbnails/endometriosisgeneexpressmetaanalysis-12813787791997-phpapp01-thumbnail.jpg?width=120&height=120&fit=bounds presentation Black http://activitystrea.ms/schema/1.0/post http://activitystrea.ms/schema/1.0/posted 0 Why Does FDA Need Standards For In Vitro Diagnostic Devices /mehisp/why-does-fda-need-standards-for-in-vitro-diagnostic-devices whydoesfdaneedstandardsforinvitrodiagnosticdevices-12802595558894-phpapp02
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]]> Tue, 27 Jul 2010 14:42:12 GMT /mehisp/why-does-fda-need-standards-for-in-vitro-diagnostic-devices mehisp@slideshare.net(mehisp) Why Does FDA Need Standards For In Vitro Diagnostic Devices mehisp <img style="border:1px solid #C3E6D8;float:right;" alt="" src="https://cdn.slidesharecdn.com/ss_thumbnails/whydoesfdaneedstandardsforinvitrodiagnosticdevices-12802595558894-phpapp02-thumbnail.jpg?width=120&amp;height=120&amp;fit=bounds" /><br>
Why Does FDA Need Standards For In Vitro Diagnostic Devices from Mehis Pold
]]> 648 2 https://cdn.slidesharecdn.com/ss_thumbnails/whydoesfdaneedstandardsforinvitrodiagnosticdevices-12802595558894-phpapp02-thumbnail.jpg?width=120&height=120&fit=bounds presentation Black http://activitystrea.ms/schema/1.0/post http://activitystrea.ms/schema/1.0/posted 0 https://cdn.slidesharecdn.com/profile-photo-mehisp-48x48.jpg?cb=1522949606 http://www.slideshare.net/mehisp https://cdn.slidesharecdn.com/ss_thumbnails/rareeventsornotiwanttoknowaboutthem-171116055759-thumbnail.jpg?width=320&height=320&fit=bounds slideshow/rare-events-or-not-i-want-to-know-about-them/82142705 Rare events or not i w... https://cdn.slidesharecdn.com/ss_thumbnails/cosmcalk-fusions-160223160703-thumbnail.jpg?width=320&height=320&fit=bounds slideshow/cosmic-alkfusions/58615342 COSMIC ALK-FUSIONS https://cdn.slidesharecdn.com/ss_thumbnails/hiddenvalueinmedicalgeneticsdatabases-140625130227-phpapp01-thumbnail.jpg?width=320&height=320&fit=bounds slideshow/hidden-value-in-medical-genetics-databases/36301815 Hidden value in medica...