May 2019

Director's Report  PDF Icon   [17 MB]

Director's Report  PowerPoint Icon   [68 MB]

 

No.

Relevant Documents

1 New NHGRI Communications Chief
2

'Genomics2020' Strategic Planning Process

'Genomics2020' Website
'Genomics2020' News and Events Calendar
Genetic Engineering & Biotechnology News

3 New ASHG-NHGRI Diversity Partnerships
4

Leadership Shuffles at the Food and Drug Administration and National Cancer Institute

FDA Commissioner Gottlieb, Who Raised Alarms about Teen Vaping, Resigns
NCI Director Norman Sharpless Named Acting FDA chief
 

5 New Director, NIH Center for Scientific Review
6 New Director, National Institute on Deafness and Other Communications Disorders
7 Fiscal Year 2020 Appropriations Process
8

Mourning the Loss of Sydney Brenner

9 Elected to National Academy of Sciences
10 National Academy of Sciences Awards
11 ASHG Position Statement: Responsibility to Recontact
12

Genomics In the News

The NASA Twins Study: A Multidimensional Analysis of a Year-Long Human Spaceflight
Adopt a Moratorium on Heritable Genome Editing
NIH Supports Call for Moratorium on Clinical Uses of Germline Gene Editing

13

Genomes In the News

Coast Redwood
Walnut
Peanut
Strawberry
Two Cotton Genomes
Durum Wheat (for Pasta)
A Superfood Swaweed, Ito-Mozuku
Milkweed Bug
Snailfish
Antarctic Blackfin Icefish
Narwhal
Great White Shark
Red Lionfish
The Internet-Famous Cat, LilBub

14

Genome Sequencing Program (GSP)

GSP Program Website
GSP Consortium Website
Centers for Common Disease Genomics (CCDG) Website
Centers for Mendelian Genomics (CMG) Website
Matchmaker Exchange
Lappalainen – Genomic Analysis in the Age of Human Genome Sequencing
Liu – ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies
Posey – Insights into Genetics, Human Biology and Disease Gleaned from Family Based Genomic Studies
15

Technology Development Program

Technology Development Program Website
Novel Genome Technology Development Program Announcements
Advanced Genomic Technology Development Meeting
16

ENCyclopedia of DNA Elements (ENCODE)

ENCODE Program Website
ENCODE Portal
ENCODE Participants
ENCODE Data Utilization Workshop
Search Candidate cis-Regulatory Elements By ENCODE (SCREEN)
ENCODE Data on Amazon Web Services
Gasperini - A Genome-Wide Framework for Mapping Gene Regulation via Cellular Genetic Screens
ENCODE Consortium Publications List on the ENCODE Portal
ENCODE Community Publications List on the ENCODE Portal
17

Phenotypes and Exposures (PhenX) Toolkit

18

NHGRI-EBI GWAS Catalog

GWAS Catalog Program Website
Sirugo - The Missing Diversity in Human Genetic Studies
19

Electronic Medical Records and Genomics (eMERGE) Network

eMERGE Network Program Website
eMERGE Tools
Safarova – A Phenome-wide Association Study to Discover Pleiotropic Effects of PCSK9, APOB, 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 Gene–Disease Pairs
Ingles – Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
Seifert – Determining the Clinical Validity of Hereditary Colorectal Cancer and Polyposis Susceptibility Genes Using the Clinical Genome Resource Clinical Validity Framework
Lee – Clinical Validity Assessment of Genes Frequently Tested on Hereditary Breast and Ovarian Cancer Susceptibility Sequencing Panels
21

Clinical Sequence Evidence-Generating Research (CSER) Program

CSER Program Website
CSER Consortium Website
22

Implementing GeNomics In pracTicE (IGNITE)

23 Newborn Sequencing In Genomic Medicine and Public HealTh (NSIGHT)
24

International 100K+ Cohort Consortium (IHCC)

25

Computational Genomics and Data Science Program

Computational Genomics and Data Science Program Website
Genomic Analysis, Visualization, and Informatics Lab-space (AnVIL) Website
26

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

ELSI Research Program Website
Centers of Excellence in ELSI Research (CEER) Program
Genomics and Society Working Group of Council
27

SBIR/STTR Programs

Small Business Program
Bio-IT Award Website
Genomenon Press Release on Bio-IT Award
Duality Technologies

28

Research Training and Career Development

Training Program Website
Annual Meeting Website
29

Extramural Investigator-Initiated Highlights

Khera – Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood
Verma – Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals
Gupta – Single-Cell Analysis Reveals a Hair Follicle Dermal Niche Molecular Differentiation Trajectory that Begins Prior to Morphogenesis
Rubin – Coupled Single-Cell CRISPR Screening and Epigenomic Profiling Reveals Causal Gene Regulatory Networks
Sabatello – Disability Inclusion in Precision Medicine Research: A First National Survey
 

30

Human Microbiome Project (HMP)

HMP Data Coordination Center Website
NIH-Wide Microbiome Workshop Report
NIH-Wide Portfolio Analysis
31

Knockout Mouse Phenotyping Project (KOMP2)

NIH KOMP2 Program Website
International Mouse Phenotyping Consortium Website
32

Human Heredity and Health in Africa (H3Africa)

33

Undiagnosed Diseases Network (UDN)

NIH UDN Program Website
NHGRI UDN Program Website
UDN Gateway
UDN Website in Spanish

34

All of Us Research Program

All of Us Research Program Website
All of Us Research Hub
All of Us News and Events
All of Us Symposium Videocast
35

NHGRI Redesigns genome.gov

36

NHGRI History of Genomics Program

History of Genomics Website
Journal of the History of Biology Special Issue
Oral History YouTube Channel
History of Genomics Program Lecture Series

37

American Sign Language Film: Genetic Testing for Breast Cancer

38

2019 National DNA Day

NHGRI's National DNA Day Events Page
Smithsonian's HOT Topic Website
National DNA Day Events Map
39

Genome: Unlocking Life's Code Exhibition

40

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

41 Elected to National Academy of Sciences
42

Health and Human Services Career Achievement Award

43

NHGRI Intramural Research Highlights

Ostrander – Researchers Create the Largest Global Catalog of Variations in the Dog Genome
Bentley – Researchers Uncover Gene Regions that Affect Cholesterol Levels in Smokers
Shaw – Linking Genes to ADHD by Mapping Connections in the Brain
44

The Genomics Landscape: A Monthly Newsletter from the NHGRI Director

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Last updated: May 19, 2019