{\rtf1\ansi\ansicpg1252\cocoartf1038\cocoasubrtf350 {\fonttbl\f0\fswiss\fcharset0 Helvetica;} {\colortbl;\red255\green255\blue255;} \margl1440\margr1440\vieww32060\viewh22200\viewkind0 \pard\tx720\tx1440\tx2160\tx2880\tx3600\tx4320\tx5040\tx5760\tx6480\tx7200\tx7920\tx8640\ql\qnatural\pardirnatural \f0\fs24 \cf0 #Major allele reference sequences from \ #Dewey, et al. PLoS Genet 7(9):e1002280.\ #These reference sequences are built using coordinates from the Feb. 2009 assembly of the human genome (hg19, GRCh 37.1, GCA_000001405.1)\ #Repeats are soft-masked (shown in lower case)\ #1000 genomes project pilot phase data for CEU, CHB/JPT, and YRI was used to derive the major allele at every position cataloged\ #This major allele was substituted for the reference base at every position at which the NCBI reference contained the minor allele\ #Repeat masking was preserved across these substituted bases\ #Base changes (number of positions changed):\ # CEU: 1,543,755\ # YRI: 1,658,360\ # CHB/JPT: 1,676,213\ #These files are in zipped, karyotypically-sorted combined fasta files, including chrX, chrY, and 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, et al. (2011). Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence. PLoS Genet 7(9): e1002280. doi:10.1371/journal.pgen.1002280}