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126 results

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Page 1
Locus Reference Genomic sequences: an improved basis for describing human DNA variants.
Dalgleish R, Flicek P, Cunningham F, Astashyn A, Tully RE, Proctor G, Chen Y, McLaren WM, Larsson P, Vaughan BW, Béroud C, Dobson G, Lehväslaiho H, Taschner PE, den Dunnen JT, Devereau A, Birney E, Brookes AJ, Maglott DR. Dalgleish R, et al. Genome Med. 2010 Apr 15;2(4):24. doi: 10.1186/gm145. Genome Med. 2010. PMID: 20398331 Free PMC article.
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.
Danis D, Bamshad MJ, Bridges Y, Cacheiro P, Carmody LC, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, Reese JT, Rehburg F, Reis BCS, Schuetz C, Smedley D, Strauss T, Sundaramurthi JC, Thun S, Wissink K, Wagstaff JF, Zocche D, Haendel MA, Robinson PN. Danis D, et al. Among authors: dalgleish r. medRxiv [Preprint]. 2024 May 29:2024.05.29.24308104. doi: 10.1101/2024.05.29.24308104. medRxiv. 2024. Update in: HGG Adv. 2024 Oct 10;6(1):100371. doi: 10.1016/j.xhgg.2024.100371 PMID: 38854034 Free PMC article. Updated. Preprint.
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).
Povey S, Al Aqeel AI, Cambon-Thomsen A, Dalgleish R, den Dunnen JT, Firth HV, Greenblatt MS, Barash CI, Parker M, Patrinos GP, Savige J, Sobrido MJ, Winship I, Cotton RG; Ethics Committee of the Human Genome Organization (HUGO). Povey S, et al. Among authors: dalgleish r. Hum Mutat. 2010 Nov;31(11):1179-84. doi: 10.1002/humu.21339. Hum Mutat. 2010. PMID: 20683926 Free PMC article.
Guidelines for establishing locus specific databases.
Vihinen M, den Dunnen JT, Dalgleish R, Cotton RG. Vihinen M, et al. Among authors: dalgleish r. Hum Mutat. 2012 Feb;33(2):298-305. doi: 10.1002/humu.21646. Epub 2011 Dec 9. Hum Mutat. 2012. PMID: 22052659
Solving bottlenecks in data sharing in the life sciences.
Dalgleish R, Molero E, Kidd R, Jansen M, Past D, Robl A, Mons B, Diaz C, Mons A, Brookes AJ. Dalgleish R, et al. Hum Mutat. 2012 Oct;33(10):1494-6. doi: 10.1002/humu.22123. Epub 2012 Jun 18. Hum Mutat. 2012. PMID: 22623360
VarioML framework for comprehensive variation data representation and exchange.
Byrne M, Fokkema IF, Lancaster O, Adamusiak T, Ahonen-Bishopp A, Atlan D, Béroud C, Cornell M, Dalgleish R, Devereau A, Patrinos GP, Swertz MA, Taschner PE, Thorisson GA, Vihinen M, Brookes AJ, Muilu J. Byrne M, et al. Among authors: dalgleish r. BMC Bioinformatics. 2012 Oct 3;13:254. doi: 10.1186/1471-2105-13-254. BMC Bioinformatics. 2012. PMID: 23031277 Free PMC article.
126 results