Search Results
Staff
Dr. Minear is a program director in NHGRI's Division of Genomic Medicine.
… Angrist M. Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained …
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… • Newborn screening and patients with immune disorders • Exome seq • Evaluate seq for newborn screening -focus groups … replicate or augment known newborn screening results? • Exome sequencing currently cannot replicate known newborn screening results – of 182 exomes, 12.3% FN • Exome sequencing useful to augment newborn screening –can …
Staff
Dr. Sara Chandros Hull is a co-deputy scientific director in the Office of the Scientific Director and the director of NHGRI's Bioethics Core.
… Hull SC , Bamshad MJ. Genomics Really Gets Personal: How Exome and Whole Genome Sequencing Challenge the Ethical …
Staff
Dr. Chris Gunter is a senior advisor to the NHGRI director on genomics engagement.
… spectrum disorder risk genes in rhesus macaques: A whole exome sequencing study. Autism Research . 2022. [ PubMed ] …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… to analyze the tumor and non-tumor samples, including exome and whole-genome sequencing, gene-expression profiling, …
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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 …
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 …