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Page 1
Accounting for uncertainty in DNA sequencing data.
Trends Genet. 2015 Feb;31(2):61-6. doi: 10.1016/j.tig.2014.12.002. Epub 2015 Jan 8.
Trends Genet. 2015.
PMID: 25579994
Review.
Indel variant analysis of short-read sequencing data with Scalpel.
Fang H, Bergmann EA, Arora K, Vacic V, Zody MC, Iossifov I, O'Rawe JA, Wu Y, Jimenez Barron LT, Rosenbaum J, Ronemus M, Lee YH, Wang Z, Dikoglu E, Jobanputra V, Lyon GJ, Wigler M, Schatz MC, Narzisi G.
Fang H, et al.
Nat Protoc. 2016 Dec;11(12):2529-2548. doi: 10.1038/nprot.2016.150. Epub 2016 Nov 17.
Nat Protoc. 2016.
PMID: 27854363
Free PMC article.
Item in Clipboard
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ.
O'Rawe JA, et al.
Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005.
Am J Hum Genet. 2015.
PMID: 26637982
Free PMC article.
Item in Clipboard
Reducing INDEL calling errors in whole genome and exome sequencing data.
Fang H, Wu Y, Narzisi G, O'Rawe JA, Barrón LT, Rosenbaum J, Ronemus M, Iossifov I, Schatz MC, Lyon GJ.
Fang H, et al.
Genome Med. 2014 Oct 28;6(10):89. doi: 10.1186/s13073-014-0089-z. eCollection 2014.
Genome Med. 2014.
PMID: 25426171
Free PMC article.
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Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.
Jiménez-Barrón LT, O'Rawe JA, Wu Y, Yoon M, Fang H, Iossifov I, Lyon GJ.
Jiménez-Barrón LT, et al.
Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000422. doi: 10.1101/mcs.a000422.
Cold Spring Harb Mol Case Stud. 2015.
PMID: 27148569
Free PMC article.
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Accurate de novo and transmitted indel detection in exome-capture data using microassembly.
Narzisi G, O'Rawe JA, Iossifov I, Fang H, Lee YH, Wang Z, Wu Y, Lyon GJ, Wigler M, Schatz MC.
Narzisi G, et al.
Nat Methods. 2014 Oct;11(10):1033-6. doi: 10.1038/nmeth.3069. Epub 2014 Aug 17.
Nat Methods. 2014.
PMID: 25128977
Free PMC article.
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Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA, Fang H, Rynearson S, Robison R, Kiruluta ES, Higgins G, Eilbeck K, Reese MG, Lyon GJ.
O'Rawe JA, et al.
PeerJ. 2013 Oct 3;1:e177. doi: 10.7717/peerj.177. eCollection 2013.
PeerJ. 2013.
PMID: 24109560
Free PMC article.
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