Go Back   SEQanswers > Literature Watch

Similar Threads
Thread Thread Starter Forum Replies Last Post
PCR duplication in 1000 genome project Data zhanglu295 Bioinformatics 0 07-25-2011 08:23 AM
NCBI varpipe data from 1000 Genomes Project GregRM Bioinformatics 2 05-08-2011 08:32 PM
Quick question on 1000 genomes project Nataiki Bioinformatics 0 03-18-2011 12:17 PM
Extracting genome specific SNPs from 1000 genomes maricu Bioinformatics 12 01-21-2011 03:46 AM
.bam alignment format from 1000 Genomes Project CellsDividing Bioinformatics 2 02-06-2009 09:21 AM

Thread Tools
Old 11-15-2011, 11:10 AM   #1
RSS Posting Maniac

Join Date: Feb 2008
Posts: 1,443
Default PubMed: Technology-specific error signatures in the 1000 Genomes Project data.

Syndicated from PubMed RSS Feeds

Technology-specific error signatures in the 1000 Genomes Project data.

Hum Genet. 2011 Oct;130(4):505-16

Authors: Nothnagel M, Herrmann A, Wolf A, Schreiber S, Platzer M, Siebert R, Krawczak M, Hampe J

Next-generation sequencing (NGS) will likely facilitate a better understanding of the causes and consequences of human genetic variability. In this context, the validity of NGS-inferred single-nucleotide variants (SNVs) is of paramount importance. We therefore developed a statistical framework to assess the fidelity of three common NGS platforms. Using aligned DNA sequence data from two completely sequenced HapMap samples as included in the 1000 Genomes Project, we unraveled remarkably different error profiles for the three platforms. Compared to confirmed HapMap variants, newly identified SNVs included a substantial proportion of false positives (3-17%). Consensus calling by more than one platform yielded significantly lower error rates (1-4%). This implies that the use of multiple NGS platforms may be more cost-efficient than relying upon a single technology alone, particularly in physically localized sequencing experiments that rely upon small error rates. Our study thus highlights that different NGS platforms suit different practical applications differently well, and that NGS-based studies require stringent data quality control for their results to be valid.

PMID: 21344269 [PubMed - indexed for MEDLINE]

Newsbot! is offline   Reply With Quote

Thread Tools

Posting Rules
You may not post new threads
You may not post replies
You may not post attachments
You may not edit your posts

BB code is On
Smilies are On
[IMG] code is On
HTML code is Off

All times are GMT -8. The time now is 04:14 PM.

Powered by vBulletin® Version 3.8.9
Copyright ©2000 - 2021, vBulletin Solutions, Inc.
Single Sign On provided by vBSSO