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henrikbengtsson
PSCBS:Analysis of Parent-Specific DNA Copy Numbers
Segmentation of allele-specific DNA copy number data and detection of regions with abnormal copy number within each parental chromosome. Both tumor-normal paired and tumor-only analyses are supported.
Maintained by Henrik Bengtsson. Last updated 1 years ago.
acghcopynumbervariantssnpmicroarrayonechanneltwochannelgenetics
7 stars 7.63 score 34 scripts 9 dependentsmagnusdv
ibdsim2:Simulation of Chromosomal Regions Shared by Family Members
Simulation of segments shared identical-by-descent (IBD) by pedigree members. Using sex specific recombination rates along the human genome (Halldorsson et al. (2019) <doi:10.1126/science.aau1043>), phased chromosomes are simulated for all pedigree members. Applications include calculation of realised relatedness coefficients and IBD segment distributions. 'ibdsim2' is part of the 'pedsuite' collection of packages for pedigree analysis. A detailed presentation of the 'pedsuite', including a separate chapter on 'ibdsim2', is available in the book 'Pedigree analysis in R' (Vigeland, 2021, ISBN:9780128244302). A 'Shiny' app for visualising and comparing IBD distributions is available at <https://magnusdv.shinyapps.io/ibdsim2-shiny/>.
Maintained by Magnus Dehli Vigeland. Last updated 30 days ago.
identity-by-descentrelatednesssimulationcpp
5 stars 5.00 score 19 scripts 1 dependents