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DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.
Annu Rev Genomics Hum Genet. 2023 Aug 25;24:151-176. doi: 10.1146/annurev-genom-102822-100509. Epub 2023 Jun 7.
Annu Rev Genomics Hum Genet. 2023.
PMID: 37285546
Free PMC article.
Review.
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial.
Hunt SE, Moore B, Amode RM, Armean IM, Lemos D, Mushtaq A, Parton A, Schuilenburg H, Szpak M, Thormann A, Perry E, Trevanion SJ, Flicek P, Yates AD, Cunningham F.
Hunt SE, et al.
Hum Mutat. 2022 Aug;43(8):986-997. doi: 10.1002/humu.24298. Epub 2021 Dec 2.
Hum Mutat. 2022.
PMID: 34816521
Free PMC article.
Item in Clipboard
Assessing performance of pathogenicity predictors using clinically relevant variant datasets.
Gunning AC, Fryer V, Fasham J, Crosby AH, Ellard S, Baple EL, Wright CF.
Gunning AC, et al.
J Med Genet. 2021 Aug;58(8):547-555. doi: 10.1136/jmedgenet-2020-107003. Epub 2020 Aug 25.
J Med Genet. 2021.
PMID: 32843488
Free PMC article.
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Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH.
Turro E, et al.
Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.
Nature. 2020.
PMID: 32581362
Free PMC article.
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Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1.
Caswell RC, Owens MM, Gunning AC, Ellard S, Wright CF.
Caswell RC, et al.
J Endocr Soc. 2019 Sep 27;3(12):2258-2275. doi: 10.1210/js.2019-00260. eCollection 2019 Dec 1.
J Endocr Soc. 2019.
PMID: 31737856
Free PMC article.
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Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.
Fowler A, Mahamdallie S, Ruark E, Seal S, Ramsay E, Clarke M, Uddin I, Wylie H, Strydom A, Lunter G, Rahman N.
Fowler A, et al.
Wellcome Open Res. 2016 Nov 25;1:20. doi: 10.12688/wellcomeopenres.10069.1.
Wellcome Open Res. 2016.
PMID: 28459104
Free PMC article.
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