Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.
Christian RödelspergerPeter M. KrawitzSebastian BauerJochen HechtAbigail W. BighamMichael BamshadBirgit Jonske de CondorMichal R. SchweigerPeter N. RobinsonPublished in: Bioinform. (2011)
Keyphrases
- sequence data
- genetic variation
- gene clusters
- nucleotide sequences
- candidate genes
- alternative splicing
- sequence classification
- sequence analysis
- essential genes
- genome sequences
- disease genes
- evolutionary history
- profile hidden markov models
- gene expression
- regulatory elements
- biological sequences
- related genes
- complex diseases
- gene sets
- microarray
- protein protein interaction networks
- gene function
- association studies
- binding sites
- gene selection
- gene expression data