Genetic & Genomic MedicinemedRxivPreprint
Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington's disease
Sahar Gelfman, Rujin Wang, Adrián I. Campos…·Giovanni Coppola
1 citation
Author
Arkopravo Ghosh
Regeneron (United States)ORCID 0000-0003-2342-1441Unclaimed ORCID profile · follow to get notified of new preprints
Biology Disciplines
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2022-2026 · peak 2/yrCo-Author Collaboration Network
10 top collaborators · 45 mutual co-author linksFocal author (center)Selected co-authorORCID co-authorUnlinked name
Curved chords = mutual co-authorship5 shared papersGenetic & Genomic Medicine
Anthony MarckettaORCID
Mutual co-authors in cluster
5 papers
Recent·Most cited
- Genetic & Genomic MedicineJAMA Network OpenPeer-reviewed
Genomic ascertainment of CHEK2-related cancer predisposition
Sun Young Kim, Jung Kim, Mark Ramos…·Arden Moscati
This study quantifies cancer risk and penetrance in CHEK2 heterozygotes using genomic data from two large biobanks, finding increased risks for several cancers and younger age of onset.
7 citations - Genetic & Genomic MedicineNature GeneticsPeer-reviewed
Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studies
Tyler Joseph, Joelle S. Mbatchou, Arkopravo Ghosh…·Jonathan Marchini
The paper introduces REMETA, a tool for efficiently performing meta-analysis of gene-based tests using summary statistics, demonstrating its application on UK Biobank data.
7 citations - GeneticsThe American Journal of Human GeneticsPeer-reviewed
Joint testing of rare variant burden scores using non-negative least squares
Andrey Ziyatdinov, Joelle S. Mbatchou, Anthony Marcketta…·Jonathan Marchini
The paper introduces SBAT, a method for joint testing of rare variant burden scores, showing it is well calibrated and outperforms existing tests in some scenarios.
14 citations - Genetic & Genomic MedicineNature GeneticsPeer-reviewed
Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease
Julie E. Horowitz, Jack A. Kosmicki, Amy Damask…·Arden Moscati
The paper identifies a rare variant that lowers ACE2 expression and reduces COVID-19 risk, and develops a genetic risk score predicting severe disease.
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