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The practice of genomic medicine: A delineation of the process and its governing principles.
Handra J, Elbert A, Gazzaz N, Moller-Hansen A, Hyunh S, Lee HK, Boerkoel P, Alderman E, Anderson E, Clarke L, Hamilton S, Hamman R, Hughes S, Ip S, Langlois S, Lee M, Li L, Mackenzie F, Patel MS, Prentice LM, Sangha K, Sato L, Seath K, Seppelt M, Swenerton A, Warnock L, Zambonin JL, Boerkoel CF, Chin HL, Armstrong L. Handra J, et al. Among authors: chin hl. Front Med (Lausanne). 2023 Jan 12;9:1071348. doi: 10.3389/fmed.2022.1071348. eCollection 2022. Front Med (Lausanne). 2023. PMID: 36714130 Free PMC article.
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.
Chin HL, Gazzaz N, Huynh S, Handra I, Warnock L, Moller-Hansen A, Boerkoel P, Jacobsen JOB, du Souich C, Zhang N, Shefchek K, Prentice LM, Washington N, Haendel M, Armstrong L, Clarke L, Li WL, Smedley D, Robinson PN, Boerkoel CF. Chin HL, et al. Genet Med. 2022 Jul;24(7):1512-1522. doi: 10.1016/j.gim.2022.03.013. Epub 2022 Apr 19. Genet Med. 2022. PMID: 35442193 Free PMC article.
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Jacobsen JOB, Baudis M, Baynam GS, Beckmann JS, Beltran S, Buske OJ, Callahan TJ, Chute CG, Courtot M, Danis D, Elemento O, Essenwanger A, Freimuth RR, Gargano MA, Groza T, Hamosh A, Harris NL, Kaliyaperumal R, Lloyd KCK, Khalifa A, Krawitz PM, Köhler S, Laraway BJ, Lehväslaiho H, Matalonga L, McMurry JA, Metke-Jimenez A, Mungall CJ, Munoz-Torres MC, Ogishima S, Papakonstantinou A, Piscia D, Pontikos N, Queralt-Rosinach N, Roos M, Sass J, Schofield PN, Seelow D, Siapos A, Smedley D, Smith LD, Steinhaus R, Sundaramurthi JC, Swietlik EM, Thun S, Vasilevsky NA, Wagner AH, Warner JL, Weiland C; GAGH Phenopacket Modeling Consortium; Haendel MA, Robinson PN. Jacobsen JOB, et al. Nat Biotechnol. 2022 Jun;40(6):817-820. doi: 10.1038/s41587-022-01357-4. Nat Biotechnol. 2022. PMID: 35705716 Free PMC article. No abstract available.
51 results