Concepedia

Rachel G. Son

RG

Statistics

Publications

7

Citations

1.6K

H-Index

7

Active since

2020

Affiliations

Garvan Institute of Medical Research(Current)

Broad Institute

UNSW Sydney

Massachusetts General Hospital

Harvard University

Rachel G. Son is an author at Garvan Institute of Medical Research specializing in genetics, molecular genetics, and variant analysis.

Publications per year

2020–2025

7

Publications

7

A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen, Laurent C. Francioli, Julia K. Goodrich et al. · Nature · 2023 · 1.3K citations · Full text

, , +14

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Julia K. Goodrich, Moriel Singer‐Berk, Rachel G. Son et al. · Nature Communications · 2021 · 110 citations · Full text

, , +17

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha et al. · Nature Medicine · 2023 · 63 citations · Full text

, , +17

Inferring compound heterozygosity from large-scale exome sequencing data

Michael H. Guo, Laurent C. Francioli, Sarah L. Stenton et al. · Nature Genetics · 2023 · 35 citations · Full text

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Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

Moriel Singer‐Berk, Sanna Gudmundsson, Samantha Baxter et al. · The American Journal of Human Genetics · 2023 · 29 citations · Full text

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