Daniel G. MacArthur

Daniel G. MacArthur | JRNLClub

Research Statement

AI generated · 2d ago

Daniel G. MacArthur's research centres on interpreting human genetic variation to distinguish benign from disease-causing changes. His senior-authored analysis of protein-coding variation across 60,706 humans underpins much subsequent population-genetic reference work, while his first-authored systematic survey of loss-of-function variants in human protein-coding genes established how often such variants occur without obvious consequence. A related first-authored effort, guidelines for establishing causality of sequence variants in human disease, translated this into practical frameworks for clinical interpretation, and his senior-authored landscape of X chromosome inactivation across human tissues extended the same interpretive lens to regulatory and dosage biology. Beyond these, MacArthur contributed as a middle author to the 1000 Genomes Project's global reference for human genetic variation and to the VCFtools variant call format specification, infrastructure that shaped how population variation is stored and shared. His senior-authored work on transcriptome sequencing to improve Mendelian disease diagnosis and on quantifying prion disease penetrance using population controls reflects a consistent trajectory: building shared resources, then applying them to sharpen causal inference in rare disease. Collaborators on this work include Konrad J. Karczewski.

Most Cited Works

A global reference for human genetic variation

1000 Genomes Project Consortium, Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis

Nature2015

17,739Citations

The variant call format and VCFtools.

Petr Danecek, Adam Auton, Goncalo Abecasis, Cornelis A Albers, Eric Banks, Mark A DePristo, Robert E Handsaker

Research Areas

Genomics and Rare DiseasesGenetic Associations and EpidemiologyMuscle Physiology and DisordersGenomics and Phylogenetic StudiesCardiomyopathy and Myosin Studies

Affiliations & Education

Employment

2019–2026
Garvan Institute of Medical Research(AU)
Director · Centre for Population Genomics
2020–2026
UNSW Sydney(AU)
2015–2026
Murdoch Children's Research Institute(AU)
Director · Centre for Population Genomics

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Daniel G. MacArthur

Sources