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Items: 6


A universal SNP and small-indel variant caller using deep neural networks.

Poplin R, Chang PC, Alexander D, Schwartz S, Colthurst T, Ku A, Newburger D, Dijamco J, Nguyen N, Afshar PT, Gross SS, Dorfman L, McLean CY, DePristo MA.

Nat Biotechnol. 2018 Nov;36(10):983-987. doi: 10.1038/nbt.4235. Epub 2018 Sep 24.


Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis.

Sahraeian SME, Mohiyuddin M, Sebra R, Tilgner H, Afshar PT, Au KF, Bani Asadi N, Gerstein MB, Wong WH, Snyder MP, Schadt E, Lam HYK.

Nat Commun. 2017 Jul 5;8(1):59. doi: 10.1038/s41467-017-00050-4.


COSINE: non-seeding method for mapping long noisy sequences.

Afshar PT, Wong WH.

Nucleic Acids Res. 2017 Aug 21;45(14):e132. doi: 10.1093/nar/gkx511.


An ensemble approach to accurately detect somatic mutations using SomaticSeq.

Fang LT, Afshar PT, Chhibber A, Mohiyuddin M, Fan Y, Mu JC, Gibeling G, Barr S, Asadi NB, Gerstein MB, Koboldt DC, Wang W, Wong WH, Lam HY.

Genome Biol. 2015 Sep 17;16:197. doi: 10.1186/s13059-015-0758-2.


Characterization of fusion genes and the significantly expressed fusion isoforms in breast cancer by hybrid sequencing.

Weirather JL, Afshar PT, Clark TA, Tseng E, Powers LS, Underwood JG, Zabner J, Korlach J, Wong WH, Au KF.

Nucleic Acids Res. 2015 Oct 15;43(18):e116. doi: 10.1093/nar/gkv562. Epub 2015 Jun 3.


Characterization of the human ESC transcriptome by hybrid sequencing.

Au KF, Sebastiano V, Afshar PT, Durruthy JD, Lee L, Williams BA, van Bakel H, Schadt EE, Reijo-Pera RA, Underwood JG, Wong WH.

Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):E4821-30. doi: 10.1073/pnas.1320101110. Epub 2013 Nov 26.

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