검색결과 : 2건
| No. | Article |
|---|---|
| 1 |
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZDD, Conrad DF, Lunter G, Zheng HC, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld JA, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders GI, Suner MM, Hunt T, Barnes IHA, Amid C, Carvalho-Silva DR, Bignell AH, Snow C, Yngvadottir B, Bumpstead S, Cooper DN, Xue YL, Romero IG, Wang J, Li YR, Gibbs RA, McCarroll SA, Dermitzakis ET, Pritchard JK, Barrett JC, Harrow J, Hurles ME, Gerstein MB, Tyler-Smith C Science, 335(6070), 823, 2012 |
| 2 |
Mapping copy number variation by population-scale genome sequencing Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu YT, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang SL, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HYK, Leng J, Li RQ, Li YR, Lin CY, Luo RB, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi XH, Stromberg MP, Stutz AM, Urban AE, Walker JA, Wu JT, Zhang YJ, Zhang ZDD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO Nature, 470(7332), 59, 2011 |