vicsanga / Postre Star 21 Code Issues Pull requests POSTRE: Prediction Of STRuctural variant Effects pathogenicity copy-number-variation pathogenic-variants cnvs structural-variants medical-genetics non-coding-variants Updated Feb 21, 2025 R
RausellLab / CNVxplorer Star 12 Code Issues Pull requests A webtool for the clinical interpretation of CNVs in rare disease patients bioinformatics cnvs Updated Jun 10, 2022 R
SinomeM / CNValidatron_fl Star 2 Code Issues Pull requests Automated Validation of CNV calls from SNPs array, plus functions to analyse the results bioinformatics r snps genomics cnvs Updated Mar 4, 2025 R
tycheleturner / genome_class Star 1 Code Issues Pull requests Codes for genome sequencing class being taught by Tychele N. Turner, Ph.D. genome class qc snvs cnvs Updated Nov 13, 2017 R
tycheleturner / exome_class Star 1 Code Issues Pull requests Codes for exome sequencing class being taught by Tychele N. Turner, Ph.D. class gatk exome qc snvs xhmm cnvs freebayes conifer Updated Oct 9, 2017 R
edoper / CNV-analysis-from-SNP-arrays Star 0 Code Issues Pull requests CNVs-study-from-SNPs-arrays describes a workflow to detect and analyze CNVs out of large scale microarray-based genotype data. gwas cnvs Updated Jan 29, 2021 R