Olorin: Combining gene flow with exome sequencing in large family studies of complex disease

Bioinformatics

Volumn 28, Issue 24, 2012, Pages 3320-3321

  Morris, James A ^a   Barrett, Jeffrey C ^a  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; COMPUTER PROGRAM; DISEASES; EXOME; GENE FLOW; GENETIC LINKAGE; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; MUTATION; PEDIGREE;

ALLELES; DISEASE; EXOME; GENE FLOW; GENETIC LINKAGE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; PEDIGREE; SOFTWARE;

EID: 84870810717     PISSN: 13674803     EISSN: 14602059     Source Type: Journal    
DOI: 10.1093/bioinformatics/bts609     Document Type: Article

References (8)

1. Abecasis, G.R. et al. (2002)Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nature genetics, 30, 97-101.
2. Bamshad, M.J. et al. (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet., 12, 745-755.
3. Danecek, P. et al. (2011) The variant call format and VCFtools. Bioinformatics, 27, 2156-2158.
4. Fuchsberger, C. et al. (2008) PedVizApi: a Java API for the interactive, visual analysis of extended pedigrees. Bioinformatics, 24, 279-281.
5. Li, H. et al. (2009) The sequence alignment/map (SAM) format and SAMtools. Bioinformatics, 25, 2078-2079.
6. McLaren, W. et al. (2010) Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics, 26, 2069-2070.
7. Mü ller, A. et al. 2007 Visualization of genomic aberrations using Affymetrix SNP arrays. Bioinformatics 23 496-497.
8. Neale, B.M. et al. (2012) Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature, 485, 242-245.