BCFtools/RoH: A hidden Markov model approach for detecting autozygosity from next-generation sequencing data

Bioinformatics

Volumn 32, Issue 11, 2016, Pages 1749-1751

  Narasimhan, Vagheesh ^a   Danecek, Petr ^a   Scally, Aylwyn ^b   Xue, Yali ^a   Tyler Smith, Chris ^a   Durbin, Richard ^a  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EXOME; GENOMICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; SOFTWARE;

EXOME; GENOMICS; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; SOFTWARE;

EID: 84973360042     PISSN: 13674803     EISSN: 14602059     Source Type: Journal    
DOI: 10.1093/bioinformatics/btw044     Document Type: Article

References (8)

1. Abecasis, G. R. et al. (2012) An integrated map of genetic variation from 1, 092 human genomes. Nature, 491, 56-65.
2. Browning, S. R. and Browning, B. L. (2010) High-resolution detection of identity by descent in unrelated individuals. Am. J. Hum. Genet., 86, 526-539.
3. Durbin, R. et al. (1998) Biological Sequence Analysis: Probabilistic Models of Proteins and Nucleic Acids. Cambridge University Press, New York.
4. Gusev, A. et al. (2009) Whole population, genome-wide mapping of hidden relatedness. Genome Res., 19, 318-326.
5. Howrigan, D. P. et al. (2011) Detecting autozygosity through runs of homozygosity: a comparison of three autozygosity detection algorithms. BMC Genomics, 12, 460.
6. Kong, A. et al. (2010) Fine-scale recombination rate differences between sexes, populations and individuals. Nature, 467, 1099-1103.
7. Magi, A. et al. (2014) H3M2: detection of runs of homozygosity from wholeexome sequencing data. Bioinformatics, 30, 2852-2859.
8. Purcell, S. et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.