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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, Palanda… See abstract for full author list ➔ Brownstein CA, et al. Among authors: halperin e. Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53. Genome Biol. 2014. PMID: 24667040 Free PMC article.
miRNAkey: a software for microRNA deep sequencing analysis.
Ronen R, Gan I, Modai S, Sukacheov A, Dror G, Halperin E, Shomron N. Ronen R, et al. Among authors: halperin e. Bioinformatics. 2010 Oct 15;26(20):2615-6. doi: 10.1093/bioinformatics/btq493. Epub 2010 Aug 27. Bioinformatics. 2010. PMID: 20801911
Presymptomatic risk assessment for chronic non-communicable diseases.
Padhukasahasram B, Halperin E, Wessel J, Thomas DJ, Silver E, Trumbower H, Cargill M, Stephan DA. Padhukasahasram B, et al. Among authors: halperin e. PLoS One. 2010 Dec 31;5(12):e14338. doi: 10.1371/journal.pone.0014338. PLoS One. 2010. PMID: 21217814 Free PMC article.
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.
Colonna V, Ayub Q, Chen Y, Pagani L, Luisi P, Pybus M, Garrison E, Xue Y, Tyler-Smith C; 1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. Colonna V, et al. Genome Biol. 2014 Jun 30;15(6):R88. doi: 10.1186/gb-2014-15-6-r88. Genome Biol. 2014. PMID: 24980144 Free PMC article.
Faucet: streaming de novo assembly graph construction.
Rozov R, Goldshlager G, Halperin E, Shamir R. Rozov R, et al. Among authors: halperin e. Bioinformatics. 2018 Jan 1;34(1):147-154. doi: 10.1093/bioinformatics/btx471. Bioinformatics. 2018. PMID: 29036597 Free PMC article.
Learning natural selection from the site frequency spectrum.
Ronen R, Udpa N, Halperin E, Bafna V. Ronen R, et al. Among authors: halperin e. Genetics. 2013 Sep;195(1):181-93. doi: 10.1534/genetics.113.152587. Epub 2013 Jun 14. Genetics. 2013. PMID: 23770700 Free PMC article.
A global reference for human genetic variation.
1000 Genomes Project Consortium; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. 1000 Genomes Project Consortium, et al. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. Nature. 2015. PMID: 26432245 Free PMC article.
513 results