tag:blogger.com,1999:blog-6334453475526523597.post4544882503344715550..comments2023-11-07T10:31:25.370+00:00Comments on CoreGenomics: Genomes, exomes or amplicones: what's best for the clinic?James@cancerhttp://www.blogger.com/profile/02825715598810395734noreply@blogger.comBlogger6125tag:blogger.com,1999:blog-6334453475526523597.post-15253684411671762902015-09-01T05:45:14.761+01:002015-09-01T05:45:14.761+01:00Good article! Thank you so much for sharing this ...Good article! Thank you so much for sharing this one very helpful and peaceful info share by blogger, Love it Thanks again. keep it up - <a href="http://www.epharma-global.com/courses/good-clinical-practice.html" rel="nofollow">good clinical practice course</a><br />Anonymoushttps://www.blogger.com/profile/09611586000008536957noreply@blogger.comtag:blogger.com,1999:blog-6334453475526523597.post-14524147051329083412014-12-17T20:37:18.088+00:002014-12-17T20:37:18.088+00:00Here's it as a link: http://blog.knome.com/pan...Here's it as a link: <a href="http://blog.knome.com/panel-exome-or-whole-genome-sequencing" rel="nofollow">http://blog.knome.com/panel-exome-or-whole-genome-sequencing</a>Anonymoushttps://www.blogger.com/profile/06543243238692266776noreply@blogger.comtag:blogger.com,1999:blog-6334453475526523597.post-78170486462711415662014-12-17T20:32:51.946+00:002014-12-17T20:32:51.946+00:00Dr. Heidi Rehm discussed whether to use whole geno...Dr. Heidi Rehm discussed whether to use whole genome sequencing, exome, or panels in a Knome webinar this summer.<br /><br />According to her: "Panels are best when they have good clinical sensitivity and cost is a factor. When copy number variants are suspected given a certain phenotype, panels also provide better utility as sequencing technology cannot currently produce this information. Exome sequencing should be considered when it covers the genes implicated for a disease well. For very rare phenotypes, whole-genome (or exome) sequencing is the only option and may produce effective results, especially if de novo mutations are suspected."<br /><br />Blog post and link to her webinar: http://blog.knome.com/panel-exome-or-whole-genome-sequencingAnonymoushttps://www.blogger.com/profile/06543243238692266776noreply@blogger.comtag:blogger.com,1999:blog-6334453475526523597.post-12712176724532253682014-12-17T15:02:37.003+00:002014-12-17T15:02:37.003+00:00The definition you give for clinical utility does ...The definition you give for clinical utility does not go far enough. In the medical world, "Clinical utility" means that "using diagnostic information results in a significant improvement of the outcome for the patient". Proving clinical utility typically requires a prospective clinical trial. For example, using tumour sequences (from panels, exomes or whole genomes) to find targets ("actionable mutations") and then treating the patient with the corresponding targeted drugs has been shown to be feasible but has not yet proven clinical utility - several ongoing clinical trials in the US and in Europe are trying to determine this.Bertrandnoreply@blogger.comtag:blogger.com,1999:blog-6334453475526523597.post-39899191711415421722014-12-11T08:52:46.162+00:002014-12-11T08:52:46.162+00:00One of the biggest problem is the inconsistencies ...One of the biggest problem is the inconsistencies between variant databases. For example, various of variants that are not registered in ClinVar or OMIM, is registered in disease-specific databases. Researchers have to search these local databases during analysis. Also, even the variants are found in both databases, their clinical effects are conflicted. Some of them annotate a variant as pathogenic, other one as likely benign. There is no consensus for majority of variants.Anonymoushttps://www.blogger.com/profile/07784866239072818793noreply@blogger.comtag:blogger.com,1999:blog-6334453475526523597.post-16344391988388711022014-12-09T15:58:06.376+00:002014-12-09T15:58:06.376+00:00Right now clinical WGS is still too expensive. May...Right now clinical WGS is still too expensive. Maybe not sequencing-wise (though i would not be comfortable with a mean 30x WGS for clinical interpretation), but in terms of storage and processing of data. We are doing a lot of enrichment seq (for 0,5-2 Mb of targets) and the bioinformatic takes a fraction of the time of an exome. And genomes would be worse.<br />Also, right now most of what you can find in the intronic/intergenic regions is just not clinically interpretable.<br /><br />There are definitely pathogenic mutations out there - but finding them is currently extremely unlikely (barring de novo mutations in trios)<br /><br />But we might get there on a couple of years. Computers and algorithms will become faster and the X tens will generate enough data to get reliable Information on polymorphic SNVs and CNVs in the human populations to begin interpreting the regions that have not been covered well enough up to now.M. Menzelhttp://www.cegat.denoreply@blogger.com