Anne O’Donnell
Co-Director, Broad Institute Center for Mendelian Genomics · Boston Childrens Hospital
Credentials: · · ·
History
- Present
Broad Institute Center for Mendelian Genomics · Boston Childrens Hospital
- Present
2013–2014fellowship in Medical Biochemical Genetics
Research
A genomic mutational constraint map using variation in 76,156 human genomes
Nature · 2024 · 1,364 citations
A structural variation reference for medical and population genetics
Nature · 2020 · 807 citations
Variant interpretation using population databases: Lessons from gnomAD
Review · Human Mutation · 2022 · Last of 10 authors · 551 citations
30 papers
21 papers · 1 as a fellow
- EG
15 papers · 8 as a resident
15 papers
14 papers
12 papers
- SB
12 papers
- SS
12 papers · 3 as a fellow
Grants
- 2022–2029
Curation Expert Panels for Syndromic Disorders
National Institute of Child Health and Human Development · U24
Contact PI · $1.5M · Boston Children's Hospital
- 2025–2029
National Human Genome Research Institute · R01
Contact PI · $3.3M · Broad Institute, Inc.
- 1979–2028
National Institute of General Medical Sciences · T32
PI · $771.8K · Brigham and Women's Hospital
- 2023–2028
Improving Genetic Diagnosis for African Ancestry Populations
National Human Genome Research Institute · R01
Contact PI · $1.9M · Broad Institute, Inc.