Author

Colin Freeman

Centre for Human Genetics

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:database / resource· 1 Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Research Focus:imputation· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Adrián CortésiD· 1 shared Alistair T. PagnamentaiD· 1 shared Allan MotyeriD· 1 shared Anna SchuhiD· 1 shared Clare BycroftiD· 1 shared Damjan VukceviciD· 1 shared David BuckiD· 1 shared Desislava Petkova· 1 shared

Activity by Year

2017-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetics

Adrián CortésORCID

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2 papers

Recent·Most cited

Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

Hannah Roberts, Maria Lopopolo, Alistair T. Pagnamenta, Eshita Sharma, Duncan Parkes, Lorne J. Lonie, Colin Freeman, Samantha J.L. Knight, Gerton A. Lunter, Helene Marie-Pierre Dreau, Helen E. Lockstone, Jenny C. Taylor, Anna Schuh, Rory J. Bowden, David Buck

This study evaluates the ability of long-read sequencing to detect somatic variants in a lymphoma patient, highlighting the need for specialized tools and the advantages of long reads for structural variants.

Scientific Reports · Mar 19, 2021Peer-reviewedGenetics

Genome-wide genetic data on ~500,000 UK Biobank participants

Clare Bycroft, Colin Freeman, Desislava Petkova, Gavin Band, Lloyd T. Elliott, Kevin Sharp, Allan Motyer, Damjan Vukcevic, Olivier Delaneau, Jared O’Connell, Adrián Cortés, Samantha Welsh, Gil McVean, Stephen Leslie, Peter Donnelly, Jonathan Marchini

Quality-controlled genotypes for 488,377 UK Biobank participants at 805,426 markers, imputed to ~96 million variants, plus ancestry PCs, kinship (30.3% have close relatives enrolled) and HLA calls.

bioRxiv · Jul 20, 2017 · PreprintGenetics✦ In-depth digest