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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: shchelochkov oa. Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53. Genome Biol. 2014. PMID: 24667040 Free PMC article.
Genetic associations with neonatal thyroid-stimulating hormone levels.
Alul FY, Shchelochkov OA, Berberich SL, Murray JC, Ryckman KK. Alul FY, et al. Among authors: shchelochkov oa. Pediatr Res. 2013 Apr;73(4 Pt 1):484-91. doi: 10.1038/pr.2013.18. Epub 2013 Jan 23. Pediatr Res. 2013. PMID: 23344678 Free PMC article.
Association of amino acids with common complications of prematurity.
Ryckman KK, Dagle JM, Shchelochkov OA, Ehinger N, Poole SD, Berberich SL, Reese J, Murray JC. Ryckman KK, et al. Among authors: shchelochkov oa. Pediatr Res. 2013 Jun;73(6):700-5. doi: 10.1038/pr.2013.43. Epub 2013 Mar 12. Pediatr Res. 2013. PMID: 23481552 Free PMC article.
60 results