Author

Andrea Haessly

Broad InstituteORCID 0000-0002-8583-4711Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

David I. Benjamin· 2 shared Eric BanksiD· 2 shared James Emery· 2 shared Kiran V. GarimellaiD· 2 shared Laura Doyle Gauthier· 2 shared Nicholas A. Watts· 2 shared Sarah E. CalvoiD· 2 shared Adolfo CorreaiD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

David I. Benjamin

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2 papers

Recent·Most cited

Inferring compound heterozygosity from large-scale exome sequencing data

Michael H. Guo, Laurent C. Francioli, Sarah L. Stenton, Julia K. Goodrich, Nicholas A. Watts, Moriel Singer‐Berk, Emily Groopman, Philip W. Darnowsky, Matthew Solomonson, Samantha M. Baxter, Maria Teresa Abreu, Carlos Alberto Aguilar-Salinas, Tariq Ahmad, Christine M. Albert, Jessica Alföldi, , Bong-Jo Kim

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

Nature Genetics · Dec 6, 2023Peer-reviewedGenomics

Mitochondrial DNA variation across 56,434 individuals in gnomAD

Kristen M. Laricchia, Nicole J. Lake, Nicholas A. Watts, Megan Shand, Andrea Haessly, Laura Doyle Gauthier, David I. Benjamin, Eric Banks, José Soto, Kiran V. Garimella, James Emery, Heidi L. Rehm, Daniel G. MacArthur, Grace Tiao, Monkol Lek, , Sarah E. Calvo

The paper presents a pipeline to call mitochondrial DNA variants in gnomAD, reporting population frequencies for 10,850 unique mtDNA variants across 56,434 individuals.

Genome Research · Mar 1, 2022Peer-reviewedGenomics