Director's Report-Related Documents

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FDA Finalizes Rule for LDT Oversight and Regulation

FDA Finalized Rule

Final Regulatory Impact Analysis of the Final Rule

FDA Proposed Rule

Association for Molecular Pathology Response to the Proposed Rule

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FDA Finalizes Rule for LDT Oversight and Regulation

FDA Finalized Rule

Final Regulatory Impact Analysis of the Final Rule

FDA Proposed Rule

Association for Molecular Pathology Response to the Proposed Rule

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NASEM Report: Charting a Future for Sequencing RNA and Its Modifications

NASEM Report

Webinar Associated with Release of NASEM Report

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Molecular Phenotypes of Null Alleles in Cells (MorPhic) Phase 1

MorPhiC Program Website

MorPhiC Consortium Website

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Identifying Research Priorities to Accelerate Genetic Diagnosis Meeting

Meeting Website

Meeting Recording

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Educational Hub & Sites for Enhancing Diversity in Computational Genomics and Data Science

The Hub Program Website

Pre-Application Webinar Recording

RFA-HG-20-002 - Broadening Opportunities for Computational Genomics and Data Science Education (R25)

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NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL)

AnVIL Program Website

NIH Cloud Platform Interoperability Website

AnVIL Portal

AnVIL Help Website

Office Hours & Events

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Clinical Genome Resource (ClinGen)

ClinGen Consortium Website

Schmidt et al. – "Recommendations for Risk Allele Evidence Curation Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group”

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PhenX Toolkit: Social Determinants of Health (SDOH)

Phenotypes and Exposures (PhenX) Toolkit

NIMHD PhenX Video

Krzyzanowski et al. – “The PhenX Toolkit: Measurement Protocols for Assessment of Social Determinants of Health”

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Defining a Clinical Data Ecosystem for Genomic Health Workshop

Workshop Website

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Ethical, Legal, and Social Implications (ELSI) Research Program

ELSI Research Program Website

ELSIcon2024 Website

Registration Link for ELSIcon2024

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9th Annual NHGRI Research Training and Career Development Meeting

Training Meeting Report

NHGRI Extramural Training Program Website

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Population Descriptors for Legacy Genomic Data: Challenges and Future Directions Workshop

Workshop Website

Registration Link for Workshop

NASEM Report

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Extramural Investigator-Initiated Highlights

Yang et al. – "Sex-Specific Genetic Architecture of Blood Pressure"

Riggan et al. – "Patient Experiences with Prenatal Cell-Free DNA Screening in a Safety Net Setting"

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Knockout Mouse Phenotyping Project (KOMP2)

KOMP2 Program Website

IMPC Website

IMPC Workshops

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All of Us Research Program

All of Us Program Website

All of Us Workbench

Nature Special Collection

All of Us Program Announcement on Funding Uncertainties

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Bespoke Gene Therapy Consortium (BGTC)

BGTC Clinical Portfolio Selection

Brooks et al. – “The Bespoke Gene Therapy Consortium: Facilitating Development of AAV Gene Therapies for Rare Diseases”

FNIH Press Release about BGTC

FNIH BGTC Regulatory Playbook

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NHGRI History of Genomics Program

NHGRI History of Genomics Program Website

History of Genomics Archive Webpage

Oral History with Beth Shapiro

Virtual Exhibit: "The Human Genome Project is simply a bad idea"

Virtual Symposium: “ Exploring the Many Dimensions of Sex and Gender in the Genomics Era”

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National DNA Day

Celebrate National DNA Day Website

NHGRI News Feature on “The Ladder”

"The Ladder" Statue Unveiling and Dedication

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Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG)

ISCC-PEG Program Website

13th Annual Meeting of the ISCC-PEG

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NHGRI Intramural Research Highlights

Manoli et al. – "Lipodystrophy in Methylmalonic Acidemia Associated with Elevated FGF21 and Abnormal Methylmalonylation"

Logsdon et al. – "The Variation and Evolution of Complete Human Centromeres"

Walsh et al. – "Vitamin B12 Status and Folic Acid Supplementation Influence Mitochondrial Heteroplasmy Levels in Mice"

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