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… Ph.D. National Institute on Aging, NIH Projects: Whole Exome Sequencing of Multiplex Families for T ype 2 Diabetes; … of Medicine, Johns Hopkins University Project: Whole Exome Study of H ypertension and Blood Pressure in African … Human Genome Research Institute, NIH Project: Whole Exome Study of Type 2 Diabetes Consortia • Cohorts for Heart …
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… Goals • Produce uniform mutation calls across all TCGA exome data • 500 terabytes BAM exomes • Multiple variant …
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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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… The first is to use genome-wide sequencing (mostly whole exome sequencing) to discover the genetic basis of a large …
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.
Archive
… To sequence the exome or the genome: that is the question … Archive …
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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 …
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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 …
The Genomics Landscape
In the August 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the NHGRI Extramural Research Program and how it takes a dynamic approach to it's research portfolio to help foster groundbreaking advances in genomics.
… whose genetic causes have been challenging to determine by exome sequencing alone (see details below ). NHGRI uses many …