21278187
This reference describes IBD2.
| PMID | PMID 21278187 |
|---|---|
| Title | Identity-By-Descent Filtering of Exome Sequence data for Disease-Gene Identification in Autosomal Recessive Disorders. |
| Year | 2011 |
| Journal | Bioinformatics |
| Author | Rödelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, Bamshad M, Jonske de Condor B, Schweiger M, Robinson P. |
| Volume | |
| Start page |
Error: No contents found at URL http://www.ebi.ac.uk/europepmc/webservices/rest/MED/21278187/citations/4000.
According to Europe PubMed Central, this reference has Error: no local variable "citations" was set. " Error: no local variable "citations" was set. " is not a number. citations.
For reference, you can check Google Scholar, which lacks an API because Google ...
Error: Invalid JSON. According to Almetric, this reference has an Altmetric score of Error: no local variable "altscore" was set. " Error: no local variable "altscore" was set. " is not a number..
Full text description
MOTIVATION: Next-Generation Sequencing (NGS) and exome-capture technologies are currently revolutionizing the way geneticists screen for disease-causing mutations in rare Mendelian disorders. However, the identification of causal mutations is challenging due to the sheer number of variants that are identified in individual exomes. Although databases such as dbSNP or HapMap can be used to reduce the plethora of candidate genes by filtering out common variants, the remaining set of genes still remains on the order of dozens.
RESULTS: Our algorithm uses a non-homogeneous hidden Markov model (HMM) that employs local recombination rates to identify chromosomal regions that are identical by descent (IBD=2) in children of consanguineous or non-consanguineous parents solely based on genotype data of siblings derived from high-throughput sequencing platforms. Using simulated and real exome sequence data, we show that our algorithm is able to reduce the search space for the causative disease gene to a fifth or a tenth of the entire exome.
AVAILABILITY: The source code and tutorial are available at http://compbio.charite.de/index.php/ibd2.html.
