Stanford Medicine

Synthetic major allele human reference genomes

Dryad

Synthetic major allele human reference genomes. These reference sequences are built using coordinates from the Feb. 2009 assembly of the human genome (hg19, GRCh 37.1, GCA_000001405.1, including chrM [from the revised Cambridge Reference Sequence for human mitochondrial DNA NC_012920]).

For publications using these sequences, please cite:

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. Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet. 2011;7:e1002280.

as well as the Dryad Data Package:

Dewey FE, Chen R, Cordero SP, Ormond KE, Caleshu C, Karczewski KJ, Whirl-Carrillo M, Wheeler MT, Dudley JT, Byrnes JT, 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 (2011) Data from: Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. Dryad Digital Repository.