Search Results
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… to technologies such as next-generation sequencing, exome sequencing, gene panels, MRIs, sonograms etc., for …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… MD, Gavrilov DK, Nyhan WL, Biesecker LG, and Venditti CP. Exome sequencing identifies ACSF3 as the cause of Combined …
FAQ
Frequently asked questions from the May 23, 2023 informational webinar, ELSI Research and the New NIH Data Management and Sharing (DMS) Policy.
… interview transcripts, sociodemographic variables, whole exome sequencing data). For the remaining elements, DMS plans …
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… 1,656 771 20,612 11,285 Phase I Phase II Number of Samples Exome Sequence Production 1836739911 5 Y1 Y2 Y3 Y4 Y5 Phase I …
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… guidelines. Secondary Findings and Clinical Genome and Exome Sequencing: In early 2014 a survey was conducted of a … for Reporting Incidental Findings in Clinical Exome and Genome Sequencing". Fo llowing preliminary analysis … medically actionable genes when undergoing whole genome or exome sequencing . While the Board still considers [secondary …
Archive
… To sequence the exome or the genome: that is the question …
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… common disease studies to date have mostly used whole- exome sequencing approaches, 5 but this is changing as DNA … genome common disease studies, and six to ten large whole exome studies, selected across a range of disease … platforms is that a fully -loaded total cost per whole exome is $400, with an additional $50 for the automated …
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… CGH CNVs ☐Other (specify): Sequencing ☐Whole Genome ☐Whole Exome ☐Targeted Genome ☐Targeted Exome ☐Whole Transcriptome ☐Targeted Transcriptome …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
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… !where!appropriate,!to!better!understand!the!value!added!of!exome!or!genome!sequencing!beyond!targeted!panels!¥ …