Go Back   SEQanswers > Literature Watch

Similar Threads
Thread Thread Starter Forum Replies Last Post
PubMed: High-throughput sequencing reveals extensive variation in human-specific L1 c Newsbot! Literature Watch 0 12-25-2010 01:02 PM
PubMed: Understanding human genetic variation in the era of high-throughput sequencin Newsbot! Literature Watch 0 12-17-2010 11:30 AM
PubMed: Applications of Ultra-high-Throughput Sequencing. Newsbot! Literature Watch 0 07-10-2009 06:00 AM
PubMed: Substantial biases in ultra-short read data sets from high-throughput DNA seq Newsbot! Literature Watch 0 07-29-2008 06:10 AM
PubMed: Optimal pooling for genome re-sequencing with ultra-high-throughput short-rea Newsbot! Literature Watch 0 07-01-2008 06:42 AM

Thread Tools
Old 10-12-2010, 04:50 AM   #1
RSS Posting Maniac

Join Date: Feb 2008
Posts: 1,443
Default PubMed: Ultra High Throughput Sequencing in Human DNA Variation Detection: A Comparat

Syndicated from PubMed RSS Feeds

Related Articles Ultra High Throughput Sequencing in Human DNA Variation Detection: A Comparative Study on the NDUFA3-PRPF31 Region.

PLoS One. 2010;5(9):

Authors: Benaglio P, Rivolta C

BACKGROUND: Ultra high throughput sequencing (UHTS) technologies find an important application in targeted resequencing of candidate genes or of genomic intervals from genetic association studies. Despite the extraordinary power of these new methods, they are still rarely used in routine analysis of human genomic variants, in part because of the absence of specific standard procedures. The aim of this work is to provide human molecular geneticists with a tool to evaluate the best UHTS methodology for efficiently detecting DNA changes, from common SNPs to rare mutations. METHODOLOGY/PRINCIPAL FINDINGS: We tested the three most widespread UHTS platforms (Roche/454 GS FLX Titanium, Illumina/Solexa Genome Analyzer II and Applied Biosystems/SOLiD System 3) on a well-studied region of the human genome containing many polymorphisms and a very rare heterozygous mutation located within an intronic repetitive DNA element. We identify the qualities and the limitations of each platform and describe some peculiarities of UHTS in resequencing projects. CONCLUSIONS/SIGNIFICANCE: When appropriate filtering and mapping procedures are applied UHTS technology can be safely and efficiently used as a tool for targeted human DNA variations detection. Unless particular and platform-dependent characteristics are needed for specific projects, the most relevant parameter to consider in mainstream human genome resequencing procedures is the cost per sequenced base-pair associated to each machine.

PMID: 20927379 [PubMed - in process]

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 05:27 PM.

Powered by vBulletin® Version 3.8.9
Copyright ©2000 - 2022, vBulletin Solutions, Inc.
Single Sign On provided by vBSSO