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Page 1
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Chen X, Sanchis-Juan A, French CE, Connell AJ, Delon I, Kingsbury Z, Chawla A, Halpern AL, Taft RJ; NIHR BioResource; Bentley DR, Butchbach MER, Raymond FL, Eberle MA. Chen X, et al. Among authors: halpern al. Genet Med. 2020 May;22(5):945-953. doi: 10.1038/s41436-020-0754-0. Epub 2020 Feb 18. Genet Med. 2020. PMID: 32066871 Free PMC article.
A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.
Eberle MA, Fritzilas E, Krusche P, Källberg M, Moore BL, Bekritsky MA, Iqbal Z, Chuang HY, Humphray SJ, Halpern AL, Kruglyak S, Margulies EH, McVean G, Bentley DR. Eberle MA, et al. Among authors: halpern al. Genome Res. 2017 Jan;27(1):157-164. doi: 10.1101/gr.210500.116. Epub 2016 Nov 30. Genome Res. 2017. PMID: 27903644 Free PMC article.
Strelka2: fast and accurate calling of germline and somatic variants.
Kim S, Scheffler K, Halpern AL, Bekritsky MA, Noh E, Källberg M, Chen X, Kim Y, Beyter D, Krusche P, Saunders CT. Kim S, et al. Among authors: halpern al. Nat Methods. 2018 Aug;15(8):591-594. doi: 10.1038/s41592-018-0051-x. Epub 2018 Jul 16. Nat Methods. 2018. PMID: 30013048
CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project.
Gaedigk A, Boone EC, Scherer SE, Lee SB, Numanagić I, Sahinalp C, Smith JD, McGee S, Radhakrishnan A, Qin X, Wang WY, Farrow EG, Gonzaludo N, Halpern AL, Nickerson DA, Miller NA, Pratt VM, Kalman LV. Gaedigk A, et al. Among authors: halpern al. J Mol Diagn. 2022 Apr;24(4):337-350. doi: 10.1016/j.jmoldx.2021.12.011. Epub 2022 Feb 5. J Mol Diagn. 2022. PMID: 35134542 Free PMC article.
Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells.
Peters BA, Kermani BG, Sparks AB, Alferov O, Hong P, Alexeev A, Jiang Y, Dahl F, Tang YT, Haas J, Robasky K, Zaranek AW, Lee JH, Ball MP, Peterson JE, Perazich H, Yeung G, Liu J, Chen L, Kennemer MI, Pothuraju K, Konvicka K, Tsoupko-Sitnikov M, Pant KP, Ebert JC, Nilsen GB, Baccash J, Halpern AL, Church GM, Drmanac R. Peters BA, et al. Among authors: halpern al. Nature. 2012 Jul 11;487(7406):190-5. doi: 10.1038/nature11236. Nature. 2012. PMID: 22785314 Free PMC article.
The dog genome: survey sequencing and comparative analysis.
Kirkness EF, Bafna V, Halpern AL, Levy S, Remington K, Rusch DB, Delcher AL, Pop M, Wang W, Fraser CM, Venter JC. Kirkness EF, et al. Among authors: halpern al. Science. 2003 Sep 26;301(5641):1898-903. doi: 10.1126/science.1086432. Science. 2003. PMID: 14512627
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays.
Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, Carnevali P, Nazarenko I, Nilsen GB, Yeung G, Dahl F, Fernandez A, Staker B, Pant KP, Baccash J, Borcherding AP, Brownley A, Cedeno R, Chen L, Chernikoff D, Cheung A, Chirita R, Curson B, Ebert JC, Hacker CR, Hartlage R, Hauser B, Huang S, Jiang Y, Karpinchyk V, Koenig M, Kong C, Landers T, Le C, Liu J, McBride CE, Morenzoni M, Morey RE, Mutch K, Perazich H, Perry K, Peters BA, Peterson J, Pethiyagoda CL, Pothuraju K, Richter C, Rosenbaum AM, Roy S, Shafto J, Sharanhovich U, Shannon KW, Sheppy CG, Sun M, Thakuria JV, Tran A, Vu D, Zaranek AW, Wu X, Drmanac S, Oliphant AR, Banyai WC, Martin B, Ballinger DG, Church GM, Reid CA. Drmanac R, et al. Among authors: halpern al. Science. 2010 Jan 1;327(5961):78-81. doi: 10.1126/science.1181498. Epub 2009 Nov 5. Science. 2010. PMID: 19892942
124 results