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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 2024.
… Website MOHD Kick-Off Meeting 32 Clinical Genome Resource (ClinGen) ClinGen Consortium Website Goldstein et al. – “Variant … for Pompe Disease: ACMG/AMP Specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel” …
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 September 2020.
… Release eMERGE Resources 28 Clinical Genome Resource (ClinGen) ClinGen Program Website ClinGen Ancestry and Diversity Working Group Publication …
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 May 2024.
… Website Office Hours & Events 18 Clinical Genome Resource (ClinGen) ClinGen Consortium Website Schmidt et al. – "Recommendations … Evidence Curation Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group” 19 PhenX …
File
ClinGen and ClinVar.pdf …
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 2021.
… Learning in Genomics Workshop 21 Clinical Genome Resource (ClinGen) ClinGen Program Website Open Targets Platform ClinGen Integration Blog 22 Clinical Sequencing …
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 May 2020.
… and Exposures (PhenX) Toolkit 17 Clinical Genome Resource (ClinGen) ClinGen Consortium Website PAR-20-101 - Genomic Expert …
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 May 2019.
… and LDLR eMERGE Resources 20 Clinical Genome Resource (ClinGen) ClinGen Consortium Website Hosseini – Reappraisal of Reported Genes for Sudden Arrhythmic Death DiStefano – ClinGen Expert Clinical Validity Curation of 164 Hearing Loss …
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 September 2019.
… Records and Genomics (eMERGE) Network 20 Clinical Genome (ClinGen) Resource ClinGen Consortium Website ClinGen Community Curation 21 Clinical Sequence …
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 2022.
… Research Consortium (CSER) 36 Clinical Genome Resource (ClinGen) ClinGen Program Website ClinGen and GeT-RM Collaborative Project 37 Polygenic Risk …
Staff
Dr. Lanata is a staff clinician in NHGRI's Genomics of Autoimmune Rheumatic Disease Section.
… currently serves on the SLE Gene Curation Expert Panel for ClinGen, Clinical Genome Resource, whose purpose is to create …