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SNVMix

SNVMix: Detecting single nucleotide variants from next generation sequencing data SNVMix is designed to detect single nucleotide variants from next generation sequencing data. SNVMix is a post-alignment tool. Given a pileup file (either Maq or Samtools format) as input and model parameters, SNVMix will output the probability that each position is one of three genotypes:  […]

HMM-Dosage

HMM-Dosage (HMM for Detection of Somatic And Germline Events) is a software that can analyze SNP-genotyping data of tumours to predict both somatic and germline copy number changes. Statistical approaches to achieve the critical distinction of CNAs (somatic) and CNVs (germline) events in SNP genotyping arrays are underdeveloped. We outline our approach to address this […]