luntergroup / octopus Star 305 Code Issues Pull requests Discussions Bayesian haplotype-based mutation calling bioinformatics genomics somatic-variants haplotypes variants variant-calling single-cell phasing de-novo-mutation Updated Aug 12, 2023 C++
dantaki / SV2 Star 58 Code Issues Pull requests Support Vector Structural Variation Genotyper machine-learning bioinformatics genotype structural-variation genotyping-by-sequencing de-novo-mutation Updated May 29, 2020 Python
dbmi-bgm / granite Star 6 Code Issues Pull requests A collection of software to work with genomic variants vcf variants snv variant-filtration variant-analysis snvs trio de-novo-mutation single-nucleotide-variation de-novo-mutations compound-heterozygous Updated Sep 11, 2024 Python
campanam / RatesTools Star 5 Code Issues Pull requests Pipeline to calculate de novo mutation rates from parent-offspring trios ruby r nextflow de-novo-mutation Updated Aug 12, 2024 Ruby
PankratzLab / SuperNovo Star 0 Code Issues Pull requests DeNovo Mutation Identification and Validation de-novo-mutation ngs-analysis Updated Dec 2, 2022 Java
ionut-d / Extract-de-novo-mutations-from-family-trio Star 0 Code Issues Pull requests GENOMICS: Finding the child from a family trio and extracting de novo mutations using vcfR R package. genomics de-novo-mutation family-trio Updated Mar 5, 2021 R