NHGRI logo

February 2019

Director's Report (9.9 MB)

Director's Report (51.6 MB)



Relevant Documents


'Genomics2020' Strategic Planning Process

'Genomics2020' Website
'Genomics2020' News and Events Calendar
'Genome to Phenotype' Workshop Videocast

2 Population Descriptors in Genomics and Biomedical Research
3 Mourning the Loss of Steve Katz
4 New Director, National Institute of Biomedical Imaging and Bioengineering
5 New Director, White House Office of Science and Technology Policy
6 Genomic Data Sharing Policy Update: Access to Genomic Summary Results (GSR)
7 NIH Implementation of Common Rule

NIH Workshop: Harnessing Artificial Intelligence and Machine Learning to Advance Biomedical Research

Workshop Information
Workshop Report
Workshop Videocast
Artificial Intelligence Working Group

9 Mourning the Loss of Ray White
10 2018 American Society of Human Genetics Awards
11 Elected to National Academy of Medicine
12 Elected to AAAS
13 2018 Human Proteome Organization Award
14 Science's 2018 Breakthrough of the Year Runners Up
15 The Scientist's Top Ten Innovations of 2018

Genomes In the News

Opium Poppy
Cane Toad
Fall Webworm
Gypsy Moth
Small Hive Beetle
Vinous-Throated Parrotbill
Blue-Fronted Amazon Parrot
Hawaiian Bobtail Squid
Sea Lettuce
Orange Clownfish (Like 'Nemo')
Bottlenose Dolphin Named Sandy
Lonesome George from the Galapagos


Genome Sequencing Program (GSP)

GSP Program Website
GSP Consortium Website
Centers for Common Disease Genomics (CCDG) Website
Centers for Mendelian Genomics (CMG) Website
Matchmaker Exchang Email List
Matchmaker Exchange Email List
Arachchi - Matchbox: An Open-Source Tool for Patient Matching via the Matchmaker Exchange
NGMLR Alignment Method
Sniffles Structural Variant Identification Method
GSP Twitter Feed
Program in Quantitative Genomics Meeting Website
Gazal - Functional Architecture of Low-Frequency Variants Highlights Strength of Negative Selection Across Coding and Non-Coding Annotations
Wojcik - Imputation-Aware Tag SNP Selection to Improve Power for Large-Scale, Multi-ethnic Association Studies

Human Genome Reference Program

Human Genome Reference Center (U41) RFA-HG-19-004
High Quality Human Reference Genomes (U01) RFA-HG-19-002
Research and Development for Genome Reference Representations (U01) RFA-HG-19-003
Potential Applicant Webinar

Technology Development Program

Technology Development Program Website
Novel Genome Technology Development Program Announcements
Advanced Genomic Technology Development Meeting

ENCyclopedia of DNA Elements (ENCODE)

ENCODE Program Website
ENCODE Participants
NHGRI Strategic Planning
ENCODE Data Utilization Workshop
Search Candidate cis-Regulatory Elements By ENCODE (SCREEN)
PsychENCODE Publication Package
PsychENCODE Website
PsychENCODE Knowledge Portal

Centers of Excellence in Genomic Science (CEGS) Program

CEGS Program Website
Kalhor - Developmental Barcoding of Whole Mouse via Homing CRISPR
Gaj - The Continuously Evolving CRISPR Barcoding Toolbox

Electronic Medical Records and Genomics (eMERGE) Network

eMERGE Program Website
eMERGE Tools

Clinical Genome Resource (ClinGen)

ClinGen Consortium Website
Special Issue: ClinGen and ClinVar - Enabling Genomics in Precision Medicine
FDA News Release
Recognized Variants in ClinVar
FDA Human Genetic Variant Databases

Clinical Sequence Evidence-Generating Research (CSER) Program

CSER Program Website
CSER Consortium Website
eMERGE & CSER: Genomics and Medicine Steering Committee Meeting

Implementing GeNomics in pracTicE (IGNITE)

IGNITE Program Website
IGNITE I Network Website
IGNITE II: Pragmatic Clinical Trials - Clinical Groups (U01) RFA-HG-17-008
IGNITE II: Pragmatic Clinical Trials - Enhanced Diversity Clinical Groups (U01) RFA-HG-17-009
IGNITE II: Pragmatic Clinical Trials - Coordinating Center (U01) RFA-HG-17-010

Newborn Sequencing in Genomic Medicine and Public HealTh (NSIGHT)

NSIGHT Program Website
Ceyhan-Birsoy - Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

Computational Genomics and Data Science Program

Computational Genomics and Data Science Program Website
Investigator-Initiated Research in Computational Genomics and Data Science (R01) PAR-18-844
Investigator-Initiated Research in Computational Genomics and Data Science (R21) PAR-18-843
Computational Genomics and Data Science Opportunities for Small Business (R43/R44) PAR-19-061
Alliance of Genome Resources Website
Gene Ontology Consortium Website
28 5th iDASH Genomic Privacy Challenge

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

ELSI Research Program Website
ELSI Publication Database
Michie and Allyse - Gene Modification Therapies: Views of Parents of People with Down Syndrome
Guerrini - Should Police Have Access to Genetic Genealogy Databases? Capturing the Golden State Killer and Other Criminals Using a Controversial New Forensic Technique
Juengst - Is Enhancement the Price of Prevention in Human Gene Editing?
30 Small Business Program

Research Training and Career Development

Training Program Website
NIH Guide Notice

NHGRI Extramural Research Highlights

Hazel - Who Knows What, and When?: A Survey of the Privacy Policies Proffered by U.S. Direct-to-Consumer Genetic Testing Companies
Kuzmin - Systematic Analysis of Complex Genetic Interactions

Knockout Mouse Phenotyping Project (KOMP2)

KOMP2 Program Website
International Mouse Phenotyping Consortium Website
Moore - Identification of Genes Required for Eye Development by High-Throughput Screening of Mouse Knockouts

Gabriella Miller Kids First Pediatric Research Program

Kids First Program Website
Kids First-KOMP2 Collaboration Page
KOMP2 Program Website
International Mouse Phenotyping Consortium

Human Heredity and Health in Africa (H3Africa)

H3Africa Program Website
Siddle - Genomic Analysis of Lassa Virus during an Increase in Cases in Nigeria in 2018
Baichoo - Developing Reproducible Bioinformatics Analysis Workflows for Heterogeneous Computing Environments to Support African Genomics
Owolabi - Data Resource Profile: Cardiovascular H3Africa Innovation Resource (CHAIR)
Wagner - Sociodemographic, Socioeconomic, Clinical and Behavioural Predictors of Body Mass Index Vary by Sex in Rural South African Adults-Findings from the AWI-Gen Study

Undiagnosed Diseases Network (UDN)

UDN Program Website (NIH)
UDN Program Website (NHGRI)
UDN Gateway
Splinter NHGRI Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease


Human Biomolecular Atlas Program (HuBMAP)

HuBMAP Program Website
The Human Biomolecular Atlas Program (HuBMAP): Rapid Implementation of Technologies that Will Accelerate Development of a Framework for Mapping the Human Body at High Resolution (UH3) RFA-RM-19-002


Somatic Cell Genome Editing (SCGE)

SCGE Program Website
SCGE Funding Opportunities

All of Us Research Program

All of Us Research Program Website
All of Us Research Hub
All of Us News and Events

New Video Highlights NHGRI Story

Venditti Video (Patients and their families work with NIH researchers to advance research on methylmalonic acidemia)
41 Genome: Unlocking Life's Code Exhibition

NHGRI Outreach Programs

National Academy of Sciences LabX
National DNA Day

My Family Health Portrait

My Family Health Portrait
Announcing a New CDC Home for the U.S. Surgeon General's Family Health History Tool
44 Dan Kastner Honored as Federal Employee of the Year
45 Charles Rotimi Named 2018 Quartz Africa Innovator
46 Bill Gahl Steps Down as NHGRI Clinical Director

NHGRI Intramural Research Highlights

Venditti - FGF21 Underlies a Hormetic Response to Metabolic Stress in Methylmalonic Acidemia
Bonham - A CRISPR Focus on Attitudes and Beliefs Toward Somatic Genome Editing from Stakeholders within the Sickle Cell Disease Community
Narisu - Whole-Genome Sequencing of 175 Mongolians Uncovers Population-Specific Genetic Architecture and Gene Flow Throughout North and East Asia

The Genomics Landscape: A Monthly Newsletter from the NHGRI Director

Listserv Sign-Up
Issue Archive

Last updated: May 13, 2019