URL: http://sourceforge.net/projects/variantmaster/
Proper Citation: VariantMaster (RRID:SCR_000569)
Description: Software program that extracts causative variants in familial and sporadic genetic diseases. The algorithm takes into account predicted variants (SNPs and indels) in affected individuals or tumor samples and utilizes the row (BAM) data to robustly estimate the conditional probability of segregation in a family, as well as the probability of it being de novo or somatic. In familial cases, various modes of inheritance are considered: X-linked, autosomal dominant, and recessive (homozygosity or compound heterozygosity). Moreover, it integrates phenotypes and genotypes, and employs Annovar to produce additional information as allelic frequencies in general population and damaging scores.
Abbreviations: VariantMaster
Synonyms: VariantMaster - Extract causative variants for monogenic and sporadic genetic diseases
Resource Type: software resource
Defining Citation: PMID:24389049
Keywords: unix/linux, clinical, genetics, high throughput sequencing, monogenic disease, variant, snp, indel
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