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Clinical interpretation and implications of whole-genome sequencing.
Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, Merker JD, Goldfeder RL, Enns GM, David SP, Pakdaman N, Ormond KE, Caleshu C, Kingham K, Klein TE, Whirl-Carrillo M, Sakamoto K, Wheeler MT, Butte AJ, Ford JM, Boxer L, Ioannidis JP, Yeung AC, Altman RB, Assimes TL, Snyder M, Ashley EA, Quertermous T. Dewey FE, et al. Among authors: butte aj. JAMA. 2014 Mar 12;311(10):1035-45. doi: 10.1001/jama.2014.1717. JAMA. 2014. PMID: 24618965 Free PMC article.
Clinical assessment incorporating a personal genome.
Ashley EA, Butte AJ, Wheeler MT, Chen R, Klein TE, Dewey FE, Dudley JT, Ormond KE, Pavlovic A, Morgan AA, Pushkarev D, Neff NF, Hudgins L, Gong L, Hodges LM, Berlin DS, Thorn CF, Sangkuhl K, Hebert JM, Woon M, Sagreiya H, Whaley R, Knowles JW, Chou MF, Thakuria JV, Rosenbaum AM, Zaranek AW, Church GM, Greely HT, Quake SR, Altman RB. Ashley EA, et al. Among authors: butte aj. Lancet. 2010 May 1;375(9725):1525-35. doi: 10.1016/S0140-6736(10)60452-7. Lancet. 2010. PMID: 20435227 Free PMC article.
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.
Dewey FE, Chen R, Cordero SP, Ormond KE, Caleshu C, Karczewski KJ, Whirl-Carrillo M, Wheeler MT, Dudley JT, Byrnes JK, Cornejo OE, Knowles JW, Woon M, Sangkuhl K, Gong L, Thorn CF, Hebert JM, Capriotti E, David SP, Pavlovic A, West A, Thakuria JV, Ball MP, Zaranek AW, Rehm HL, Church GM, West JS, Bustamante CD, Snyder M, Altman RB, Klein TE, Butte AJ, Ashley EA. Dewey FE, et al. Among authors: butte aj. PLoS Genet. 2011 Sep;7(9):e1002280. doi: 10.1371/journal.pgen.1002280. Epub 2011 Sep 15. PLoS Genet. 2011. PMID: 21935354 Free PMC article.
Performance comparison of whole-genome sequencing platforms.
Lam HY, Clark MJ, Chen R, Chen R, Natsoulis G, O'Huallachain M, Dewey FE, Habegger L, Ashley EA, Gerstein MB, Butte AJ, Ji HP, Snyder M. Lam HY, et al. Among authors: butte aj. Nat Biotechnol. 2011 Dec 18;30(1):78-82. doi: 10.1038/nbt.2065. Nat Biotechnol. 2011. PMID: 22178993 Free PMC article.
Personal omics profiling reveals dynamic molecular and medical phenotypes.
Chen R, Mias GI, Li-Pook-Than J, Jiang L, Lam HY, Chen R, Miriami E, Karczewski KJ, Hariharan M, Dewey FE, Cheng Y, Clark MJ, Im H, Habegger L, Balasubramanian S, O'Huallachain M, Dudley JT, Hillenmeyer S, Haraksingh R, Sharon D, Euskirchen G, Lacroute P, Bettinger K, Boyle AP, Kasowski M, Grubert F, Seki S, Garcia M, Whirl-Carrillo M, Gallardo M, Blasco MA, Greenberg PL, Snyder P, Klein TE, Altman RB, Butte AJ, Ashley EA, Gerstein M, Nadeau KC, Tang H, Snyder M. Chen R, et al. Among authors: butte aj. Cell. 2012 Mar 16;148(6):1293-307. doi: 10.1016/j.cell.2012.02.009. Cell. 2012. PMID: 22424236 Free PMC article.
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A, Harris J, Leng N, Bartha G, Church DM, Luo S, Haudenschild C, Pratt M, Zook J, Salit M, Tirch J, Morra M, Chervitz S, Li M, Clark M, Garcia S, Chandratillake G, Kirk S, Ashley E, Snyder M, Altman R, Bustamante C, Butte AJ, West J, Chen R. Patwardhan A, et al. Among authors: butte aj. Genome Med. 2015 Jul 16;7(1):71. doi: 10.1186/s13073-015-0197-4. eCollection 2015. Genome Med. 2015. PMID: 26269718 Free PMC article.
Performance comparison of exome DNA sequencing technologies.
Clark MJ, Chen R, Lam HY, Karczewski KJ, Chen R, Euskirchen G, Butte AJ, Snyder M. Clark MJ, et al. Among authors: butte aj. Nat Biotechnol. 2011 Sep 25;29(10):908-14. doi: 10.1038/nbt.1975. Nat Biotechnol. 2011. PMID: 21947028 Free PMC article.
Systematic functional regulatory assessment of disease-associated variants.
Karczewski KJ, Dudley JT, Kukurba KR, Chen R, Butte AJ, Montgomery SB, Snyder M. Karczewski KJ, et al. Among authors: butte aj. Proc Natl Acad Sci U S A. 2013 Jun 4;110(23):9607-12. doi: 10.1073/pnas.1219099110. Epub 2013 May 20. Proc Natl Acad Sci U S A. 2013. PMID: 23690573 Free PMC article.
399 results