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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, … See abstract for full author list ➔ Brownstein CA, et al. Among authors: segal mm. Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53. Genome Biol. 2014. PMID: 24667040 Free PMC article.
User testing of a diagnostic decision support system with machine-assisted chart review to facilitate clinical genomic diagnosis.
Kulchak Rahm A, Walton NA, Feldman LK, Jenkins C, Jenkins T, Person TN, Peterson J, Reynolds JC, Robinson PN, Woltz MA, Williams MS, Segal MM. Kulchak Rahm A, et al. Among authors: segal mm. BMJ Health Care Inform. 2021 May;28(1):e100331. doi: 10.1136/bmjhci-2021-100331. BMJ Health Care Inform. 2021. PMID: 33962988 Free PMC article.
Enhancing genomic laboratory reports: A qualitative analysis of provider review.
Williams JL, Rahm AK, Stuckey H, Green J, Feldman L, Zallen DT, Bonhag M, Segal MM, Fan AL, Williams MS. Williams JL, et al. Among authors: segal mm. Am J Med Genet A. 2016 May;170A(5):1134-41. doi: 10.1002/ajmg.a.37573. Epub 2016 Feb 3. Am J Med Genet A. 2016. PMID: 26842872 Free PMC article.
40 results