Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

Asashoryu · 11-04-2010, 01:55 PM

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.

Nijman IJ, Mokry M, van Boxtel R, Toonen P, de Bruijn E, Cuppen E.

Nat Methods. 2010 Nov;7(11):913-5

Abstract
Targeted genomic enrichment followed by next-generation DNA sequencing has dramatically increased efficiency of mutation-discovery efforts. We describe a protocol for genomic enrichment of pooled barcoded samples in a single assay that increases experimental flexibility and efficiency. We screened 770 genes (1.4 megabases) in thirty N-ethyl-N-nitrosourea (ENU)-mutagenized rats and identified known variants at >96% sensitivity as well as new mutations at a false positive rate < 1 in 8 megabases.

pubmed link

Similar Threads
Thread	Thread Starter	Forum	Replies	Last Post
Extracting reads from barcoded pooled samples	megh	Bioinformatics	1	06-28-2011 12:42 AM
PubMed: Genomic SELEX: a discovery tool for genomic aptamers.	Newsbot!	Literature Watch	0	02-18-2011 12:00 PM
Alignment of multiplexed fragment samples (SOLiD)	NGS-Jo	Bioinformatics	0	01-25-2011 02:36 AM
Mutation discovery	wrapapu	Genomic Resequencing	1	03-24-2010 02:19 AM
Barcoded PE adapters for multiplexing up to 12 samples	Pepe	Illumina/Solexa	9	01-28-2010 05:36 PM

11-04-2010, 01:55 PM	#1
Asashoryu Junior Member Location: NL Join Date: May 2009 Posts: 7	Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples. Nijman IJ, Mokry M, van Boxtel R, Toonen P, de Bruijn E, Cuppen E. Nat Methods. 2010 Nov;7(11):913-5 Abstract Targeted genomic enrichment followed by next-generation DNA sequencing has dramatically increased efficiency of mutation-discovery efforts. We describe a protocol for genomic enrichment of pooled barcoded samples in a single assay that increases experimental flexibility and efficiency. We screened 770 genes (1.4 megabases) in thirty N-ethyl-N-nitrosourea (ENU)-mutagenized rats and identified known variants at >96% sensitivity as well as new mutations at a false positive rate < 1 in 8 megabases. pubmed link