Author

Richard J. Shaw

Illumina (United Kingdom)ORCID 0000-0001-8145-1601Unclaimed 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 Assay:whole-genome sequencing· 2 Research Focus:database / resource· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Ahmad Al KhleifatiD· 1 shared Alan Michael PittmaniD· 1 shared Aleksey ShatunoviD· 1 shared Alina L. Li· 1 shared Ammar Al‐ChalabiiD· 1 shared Ashley JonesiD· 1 shared Bradley N. SmithiD· 1 shared Bryan R. LajoieiD· 1 shared

Activity by Year

2017-2017 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperBioinformatics

Ahmad Al KhleifatORCID

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2 papers

Recent·Most cited

BioinformaticsGenome ResearchPeer-reviewedNov 1, 2017

Detection of long repeat expansions from PCR-free whole-genome sequence data

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw…·Michael A. Eberle

The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.

388 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsbioRxivPreprintApr 19, 2017

A Collection Of 2,280 Public Domain (CC0) Curated Genotypes

Richard J. Shaw, Manuel Corpas

The paper curates a public domain genome dataset of 2,280 individuals from 23andMe under CC0 license for research use.

3 citations

humanwhole-genome sequencing

𝕏 PostBluesky