PubMed: Strategies for Exome and Genome Sequence Data Analysis in Disease Gene Discov

Newsbot! · 05-28-2011, 12:13 PM

Syndicated from PubMed RSS Feeds

Strategies for Exome and Genome Sequence Data Analysis in Disease Gene Discovery Projects.

Clin Genet. 2011 May 26;

Authors: Robinson PN, Krawitz P, Mundlos S

In whole-exome sequencing, target capture methods are used to enrich the sequences of the coding regions of genes from fragmented total genomic DNA, followed by massively parallel, "next-generation" sequencing of the captured fragments. Since its introduction in 2009, whole-exome sequencing has been successfully used in several disease-gene discovery projects, but the analysis of whole-exome sequence data can be challenging. In this overview, we present a summary of the main computational strategies that have been applied to identify novel disease genes in whole-exome data, including intersect filters, the search for de novo mutations, and the application of linkage mapping or inference of identity by descent in family studies.

PMID: 21615730 [PubMed - as supplied by publisher]

More...

Similar Threads
Thread	Thread Starter	Forum	Replies	Last Post
PubMed: VarSifter: Visualizing and analyzing exome-scale sequence variation data on a	Newsbot!	Literature Watch	0	01-03-2012 03:00 AM
PubMed: In silico analysis of the exome for gene discovery.	Newsbot!	Literature Watch	0	11-09-2011 11:20 AM
PubMed: Identification of causal sequence variants of disease in the next generation	Newsbot!	Literature Watch	0	01-05-2011 11:40 AM
PubMed: Digital gene expression analysis of the zebra finch genome.	Newsbot!	Literature Watch	0	04-03-2010 03:02 AM
Illumina Seminar: From Whole-Genome to Whole-Solution, Disease Analysis Tools for the	ScottC	Events / Conferences	0	05-07-2008 04:14 PM

05-28-2011, 12:13 PM	#1
Newsbot! RSS Posting Maniac Join Date: Feb 2008 Posts: 1,443	PubMed: Strategies for Exome and Genome Sequence Data Analysis in Disease Gene Discov Syndicated from PubMed RSS Feeds Strategies for Exome and Genome Sequence Data Analysis in Disease Gene Discovery Projects. Clin Genet. 2011 May 26; Authors: Robinson PN, Krawitz P, Mundlos S In whole-exome sequencing, target capture methods are used to enrich the sequences of the coding regions of genes from fragmented total genomic DNA, followed by massively parallel, "next-generation" sequencing of the captured fragments. Since its introduction in 2009, whole-exome sequencing has been successfully used in several disease-gene discovery projects, but the analysis of whole-exome sequence data can be challenging. In this overview, we present a summary of the main computational strategies that have been applied to identify novel disease genes in whole-exome data, including intersect filters, the search for de novo mutations, and the application of linkage mapping or inference of identity by descent in family studies. PMID: 21615730 [PubMed - as supplied by publisher] More...