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News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
Clinical Research
A study for patients with unexpected genetic results
… TSC2 BMPR1A ENG MSH2 PRKAG2 SMAD4 TTN BRCA1 FBN1 MSH6 PTEN STK11 TTR BRCA2 FLNC MUTYH RB1 TGFBR1 VHL BTD GAA MYBPC3 …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… versions of human endometrioid ovarian tumors, carrying PTEN-/- and APC-/- mutations or PTEN-/- APC-/- and ARID1A-/- mutations. The project addresses …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… breast cancer), PAH (associated with phenylketonuria), and PTEN (associated with a tumor syndrome). Clinicians can use …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
The Genomics Landscape
In the November 4, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details how NHGRI researchers are emphasizing the need for diversity in genomics.
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… KCNE2 PROS1 TSC2 SLC37A4 KCNH2 PTCH1 VHL SLC7A9 KCNJ2 PTEN Amendola et al. Genome Res 2015. PMID: 25637381 …  Penetrance MUTYH ✔ ✔ Autosomal Dominant  Penetrance PTEN, TP53, GALNT12, POLE, POLD1, GREM1, AKT1, PIK3CA ✔ …
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… 12: Li -Fraumeni, 5: Paraganglioma/Pheochromocytoma, 2: PTEN -hamartoma , 2: TSC, 2: MEN1, 1: VHL, 1: CLL (somatic) …