PMC:4570283 / 5694-6343 JSONTXT

{"project":"2_test","denotations":[{"id":"25937445-23128226-2051076","span":{"begin":263,"end":265},"obj":"23128226"},{"id":"25937445-20562413-2051077","span":{"begin":516,"end":518},"obj":"20562413"}],"text":"High-coverage (30×) 100-bp paired-end sequencing of one of the genotyped male samples was carried out on an Illumina HiSeq 2000 with 5 μg of lymphoblastoid cell line DNA, standard library preparation, and analysis pipelines developed for the 1000 Genomes Project.13 The sequenced reads were mapped to the human GRCh37 reference sequence (UCSC Human Genome Browser hg19) used by the project (human_g1k_v37.fasta.gz). Variant annotations were performed with the R package NCBI2R and Ensembl’s Variant Effect Predictor.14 There was high concordance (99.9%) between the variant calls from the high-coverage data and the same sample’s SNP-chip genotypes."}