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… • Intentional search for actionable mutations from exome/genome – Independent of indication for sequencing • … • Intentional search for actionable mutations from exome/genome – Independent of indication for sequencing • … organic acidosis, decompensation, CNS infarcts, coma • Exome identified ACSF3 mutations • ClinSeq ® participant with …
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… to include facial twitches and mild dysarthria • Exome: de novo R418W (c.1252C>T) in ADCY5 • Familial … of adult “actionable” gene-disease pairs • Classify all Exome Variant Server (EVS) SNVs called “Disease Causing” by … 36 (0.8%) 12 (0.5%) Expected Rate of Actionable Variants: Exome Variants Server (EVS) Results by Ancestry Group 626 …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2020.
… (CCDG) Website GSP Analysis Centers Website Abul-Husn - Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 … UDN Program Website UDN Gateway Reuter - Yield of whole exome sequencing in undiagnosed patients facing insurance …
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. 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, …
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 …
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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 …