Author

Daniel J. Goldstein

Broad InstituteORCID 0000-0002-0222-3852Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Benjamin M. NealeiD· 2 shared Christopher Vittal· 2 shared Jacqueline I. GoldsteiniD· 2 shared Konrad J. KarczewskiiD· 2 shared Patrick SchultziD· 2 shared Timothy PoterbaiD· 2 shared Anne O’Donnell‐LuriaiD· 1 shared Ben WeisburdiD· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersBioinformatics

Benjamin M. NealeORCID

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2 papers

Recent·Most cited

BioinformaticsBioinformaticsPeer-reviewedDec 19, 2024

The Scalable Variant Call Representation: Enabling Genetic Analysis Beyond One Million Genomes

Timothy Poterba, Christopher Vittal, Daniel A. King…·Benjamin M. Neale

This paper introduces SVCR, a scalable variant call format that reduces file size and enables efficient analysis of large genetic datasets.

15 citations

whole-genome sequencingstatistical model

𝕏 PostBluesky

GenomicsbioRxivPreprintApr 11, 2024

The landscape of regional missense mutational intolerance quantified from 730,947 exomes

Lily Wang, Katherine R. Chao, Ruchit Panchal…·Kaitlin E. Samocha

The paper quantifies regional missense mutational intolerance using 730,947 exomes to identify constrained gene regions and improve variant interpretation.

13 citations

humanwhole-exome sequencing

𝕏 PostBluesky