SEQanswers

Go Back   SEQanswers > Literature Watch



Similar Threads
Thread Thread Starter Forum Replies Last Post
PubMed: HAPIscreen, a method for high-throughput aptamer identification. Newsbot! Literature Watch 0 12-14-2011 02:30 AM
PubMed: INDeGenIUS, a new method for high-throughput identification of specialized fu Newsbot! Literature Watch 0 01-16-2011 12:50 AM
PubMed: Genome-wide SNP identification by high-throughput sequencing and selective ma Newsbot! Literature Watch 0 01-05-2011 10:40 AM
PubMed: Accurate, rapid and high-throughput detection of strain-specific polymorphism Newsbot! Literature Watch 0 11-26-2010 02:00 AM
PubMed: Identification of novel and candidate miRNAs in rice by high throughput seq Newsbot! Literature Watch 0 03-04-2008 05:53 AM

Reply
 
Thread Tools
Old 04-14-2011, 11:30 PM   #1
Newsbot!
RSS Posting Maniac
 

Join Date: Feb 2008
Posts: 1,443
Default PubMed: Accurate and exact CNV identification from targeted high-throughput sequence

Syndicated from PubMed RSS Feeds

Accurate and exact CNV identification from targeted high-throughput sequence data.

BMC Genomics. 2011 Apr 12;12(1):184

Authors: Nord AS, Lee M, King MC, Walsh T

ABSTRACT: BACKGROUND: Massively parallel sequencing of barcoded DNA samples significantly increases screening efficiency for clinically important genes. Short read aligners are well suited to single nucleotide and indel detection. However, methods for CNV detection from targeted enrichment are lacking. We present a method combining coverage with map information for the identification of deletions and duplications in targeted sequence data. RESULTS: Sequencing data is first scanned for gains and losses using a comparison of normalized coverage data between samples. CNV calls are confirmed by testing for a signature of sequences that span the CNV breakpoint. With our method, CNVs can be identified regardless of whether breakpoints are within regions targeted for sequencing. For CNVs where at least one breakpoint is within targeted sequence, exact CNV breakpoints can be identified. In a test data set of 96 subjects sequenced across ~1Mb genomic sequence using multiplexing technology, our method detected mutations as small as 31bp, predicted quantitative copy count, and had a low false-positive rate. CONCLUSIONS: Application of this method allows for identification of gains and losses in targeted sequence data, allowing for comprehensive mutation screening when combined with a short read aligner.

PMID: 21486468 [PubMed - as supplied by publisher]



More...
Newsbot! is offline   Reply With Quote
Reply

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 05:47 PM.


Powered by vBulletin® Version 3.8.9
Copyright ©2000 - 2020, vBulletin Solutions, Inc.
Single Sign On provided by vBSSO