Tuesday, 12 October 2010

Human Whole genome sequencing at 11x coverage


Just saw this paper Sequencing and analysis of an Irish human genome. AFAIK WGS is usually done at 30x coverage. In this paper, the authors “describe a novel method for improving SNP calling accuracy at low genome coverage using haplotype information.” I thought it was pretty good considering that they had 99.3% of the reference genome covered for 10.6x coverage. That leaves only like 21 Mbases missing ..

For those interested in the tech details

Four single-end and five paired-end DNA libraries were generated and sequenced using a GAII Illumina Genome Analyzer. The read lengths of the single-end libraries were 36, 42, 45 and 100 bp and those of the paired end were 36, 40, 76, and 80 bp, with the span sizes of the paired-end libraries ranging from 300 to 550 bp (± 35 bp). In total, 32.9 gigabases of sequence were generated (Table 1). Ninety-one percent of the reads mapped to a unique position in the reference genome (build 36.1) and in total 99.3% of the bases in the reference genome were covered by at least one read, resulting in an average 10.6-fold coverage of the genome.
At 11-fold genome coverage, approximately 99.3% of the reference genome was covered and more than 3 million SNPs were detected, of which 13% were novel and may include specific markers of Irish ancestry.

No comments:

Post a Comment

Datanami, Woe be me