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2014 ; 15
(ä): 172
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hsphase: an R package for pedigree reconstruction, detection of recombination
events, phasing and imputation of half-sib family groups
#MMPMID24906803
Ferdosi MH
; Kinghorn BP
; van der Werf JH
; Lee SH
; Gondro C
BMC Bioinformatics
2014[Jun]; 15
(ä): 172
PMID24906803
show ga
BACKGROUND: Identification of recombination events and which chromosomal segments
contributed to an individual is useful for a number of applications in genomic
analyses including haplotyping, imputation, signatures of selection, and improved
estimates of relationship and probability of identity by descent. Genotypic data
on half-sib family groups are widely available in livestock genomics. This
structure makes it possible to identify recombination events accurately even with
only a few individuals and it lends itself well to a range of applications such
as parentage assignment and pedigree verification. RESULTS: Here we present
hsphase, an R package that exploits the genetic structure found in half-sib
livestock data to identify and count recombination events, impute and phase
un-genotyped sires and phase its offspring. The package also allows
reconstruction of family groups (pedigree inference), identification of pedigree
errors and parentage assignment. Additional functions in the package allow
identification of genomic mapping errors, imputation of paternal high density
genotypes from low density genotypes, evaluation of phasing results either from
hsphase or from other phasing programs. Various diagnostic plotting functions
permit rapid visual inspection of results and evaluation of datasets. CONCLUSION:
The hsphase package provides a suite of functions for analysis and visualization
of genomic structures in half-sib family groups implemented in the widely used R
programming environment. Low level functions were implemented in C++ and
parallelized to improve performance. hsphase was primarily designed for use with
high density SNP array data but it is fast enough to run directly on sequence
data once they become more widely available. The package is available (GPL 3)
from the Comprehensive R Archive Network (CRAN) or from
http://www-personal.une.edu.au/~cgondro2/hsphase.htm.