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February 2020

Director's Report  PDF Icon   [22.1 MB]

Director's Report  PowerPoint Icon   [122.1  MB]



Relevant Documents

1 New Senior Advisor to the Director
2 Harold D. West, Ph.D. Distinguished Biomedical Science Award
3 'Genomics2020' Strategic Planning Process

'Genomics2020' Website
'Genomics2020' News and Events Calendar
4 New Chief Executive Officer, NIH All of Us Research Program

Selection of Dr. Joshua Denny as Chief Executive Officer of the All of Us Research Program
All of Us Research Program
All of Us News, Events, and Media Website
5 New Director, NIH Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative

Dr. John Ngai named director of NIH BRAIN Initiative
NIH BRAIN Initiative Website
NIH BRAIN Initiative Five Year Plan
6 Nominated Director, National Science Foundation
7 Leadership Shuffles at the National Cancer Institute & Food and Drug Administration

Statement on the return of Dr. Ned Sharpless as NCI Director
New Commissioner, Food and Drug Administration
8 Martha Somerman Retires as Director, National Institute of Dental and Craniofacial Research
9 Draft NIH Policy for Data Management and Sharing
10 Fiscal Year 2020 Appropriations
11 Mourning the Loss of Jo Messing
12 Mourning the Loss of David Hogness
13 2019 American Society of Human Genetics Awards
14 Schottenstein Prize & Oscar B. Hunter Career Award

Jay and Jeanie Schottenstein Prize in Cardiovascular Sciences
Oscar B. Hunter Career Award in Therapeutics
15 Elected to National Academy of Medicine
16 Elected to AAAS
17 International Common Disease Alliance (ICDA)

ICDA Website
ICDA White Paper
18 Genomic Medicine Working Group Publishes “Year in Review: 2019”
19 Science's Breakthrough of the Year Runners Up
20 The Scientist’s Top Technical Advances of 2019
21 Nature's Science of the Decade
22 Genomes In the News

Atlantic Herring
Devil Worm
Water Lilly
Red Pineapple
Carolina Parakeet
Foxtail Millet
Indian Cobra
Giant Squid
23 Genome Sequencing Program (GSP)

GSP Website
GSP Consortium Website
Centers for Common Disease Genomics (CCDG) Website
GSP Analysis Centers Website
Abul-Husn - Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank
Chen - A bootstrap method for goodness of fit and model selection with a single observed network
Centers for Mendelian Genomics (CMG) Website
24 Mendelian Genomics Research Consortium Funding Opportunity Announcements

RFA-HG-20-007 - Mendelian Genomics Research Centers (U01)
RFA-HG-20-008 - Mendelian Genomics Data Coordinating Center (U24)
Mendelian Genomics Research Consortium Pre-Application Webinar
25 Human Genome Reference Program (HGRC)

HGRC Website
Human Pangenome Reference Consortium
26 Technology Development Program

Technology Development Program Website
Novel Genome Technology Development Program Announcements
Workman - Nanopore native RNA sequencing of human poly(A) transcriptome
27 ENCyclopedia Of DNA Elements (ENCODE)

ENCODE Program Website
ENCODE Participants
ENCODE Data Utilization Workshop
ENCODE Imputation Challenge
Search Candidate cis-Regulatory Elements by ENCODE (SCREEN)
28 Centers of Excellence in Genomic Science (CEGS)

CEGS Program Website
PAR-19-204 - Centers of Excellence in Genomic Science (RM1)
NOT-HG-20-013 - Emphasizing an Opportunity for New Institutional Applicants in Response to PAR-19-204 Centers of Excellence in Genomic Science (RM1)
29 Electronic Medical Records and Genomics (eMERGE) Network

eMERGE Network Program Website
eMERGE Consortium - Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network
eMERGE Resources
30 Clinical Genome Resource (ClinGen)

ClinGen Consortium Website
ClinGen Copy Number Variants (CNVs) Web Series
Ritter - A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)
Luo - ClinGen myeloid malignancy variant curation expert panel recommendations for germline RUNX1 variants
31 Clinical Sequencing Evidence-Generating Research (CSER) Program

CSER Program Website
CSER Consortium Website
32 Analysis, Visualization, and Informatics Lab-space (AnVIL)
33 NIH Biomedical Knowledgebase and Biomedical Data Repository FOAs

PAR-20-089 - Biomedical Data Repository (U24)
PAR-20-097 - Biomedical Knowledgebase (U24)
NOT-HG-20-017 - Notice of Special Interest: Genomic Data Repositories (PAR-20-089) and Knowledgebases (PAR-20-097)
PAR-20-100 - Genomic Community Resources (U24)
34 6th iDASH Genomic Privacy Challenge
35 Ethical, Legal, and Social Implications (ELSI) Research Program

ELSI Research Program Website
Center for ELSI Resources and Analysis (CERA) Request for Applications
ELSI Congress Website
36 Small Business Program
37 Extramural Training and Career Development

Training Program Website
PAR-19-380 - Initiative to Maximize Research Education in Genomics: Diversity Action Plan (R25)
38 NHGRI Investigator-Initiated Research
39 Extramural Investigator-Initiated Highlights

Bogard - A deep neural network for predicting and engineering alternative polyadenylation
Fiszbein - Exon-mediated activation of transcription starts
Applebaum - Is there a duty to reinterpret genetic data? The ethical dimensions
Tischler - Cases in precision medicine: the role of tumor and germline genetic testing in breast cancer management
40 Library of Integrated Network-Based Cellular Signatures (LINCS)

LINCS Program Website
LINCS Consortium Website
Common Fund Data Ecosystem Website
41 Human Heredity and Health in Africa (H3Africa)

H3Africa Program Website
Sequencing African Genomes Yields New Data Resource with Broad Applicability
42 Harnessing Data Science for Health Discovery and Innovation in Africa Program (DSI-Africa)
43 Undiagnosed Diseases Network (UDN)

NIH UDN Program Website
NHGRI UDN Program Website
UDN Gateway
Reuter - Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing
44 Human Biomolecular Atlas Program (HuBMAP)

HuBMAP Program Website
HuBMAP Common Fund Website
NIH-Human Cell Atlas (HCA) 2020 Meeting
RFA-RM-20-001 – Transformative Technology Development (UG3/UH3)
RFA-RM-20-002 – Tissue Mapping Centers (U54)
45 Somatic Cell Genome Editing (SCGE)

SCGE Program Website
SCGE Funding Opportunities
46 4D Nucleome Program (4DN)

4DN Program Website
4DN Common Fund Funding Page
47 Data and Technology Advancement National Service Scholar (DATA Scholars)
48 Update to NHGRI’s Implementation of the NIH Genomic Data Sharing Policy

NIH Guide Notice
Frequently Asked Questions (FAQs)
NHGRI News Release
49 New NHGRI Polygenic Risk Score Resource
50 NHGRI Director’s New Twitter Account @NHGRI_Director
51 The Gene: An Intimate History WETA Documentary

WETA-NHGRI Partnership
The Gene: An Intimate History Preview
National Education and Telecommunications Association (NETA)
Facebook Live Recording
52 Genome: Unlocking Life's Code Exhibition

Unlocking Life‘s Code Website
Jacksonville Museum of Science and Industry
New Website Feature “Genomics: Insights”
53 New NHGRI Clinical Director
54 New NHGRI Intramural Precision Health Research Program
55 Elected to National Academy of Medicine

NHGRI Intramural Research Highlights

Kastner - Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease
Sidransky - Clinical evaluation of sibling pairs with Gaucher disease discordant for Parkinsonism
Pavan - NPC1 deficiency in mice is associated with fetal growth restriction, neonatal lethality and abnormal lung pathology

57 The Genomics Landscape: A Monthly Newsletter from the NHGRI Director

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Last updated: May 13, 2020