golden helix varseq vsclinical next gen sequencing variant interpretation acmg guidelines cancer genetics copy number variation amp guidelines ngs data clinical report genomics ngs variant annotation snp and variation suite cnv biotechnology genetic analysis copy number variants variant analysis somatic cancerkb genetics annotation sources whole exome genomic data svs whole genome oncogenicity cancer clinically relevant variants whole genome sequencing gene panels tertiary analysis clinical workflows gblup genomic prediction genome wide association study gwas germline cancer genes cnvs whole exome sequencing acmg next generation sequencing variant evaluation cnv calling exomes exome single exome gene panel biotech precision medicine cancer biomarkers short read long read acmg variants varseq 2.4.0 genetic mutations prenatal genetics amp vscnv massive parallel sequencing software bioinformatics data analysis structural variants cnv detection phenotypes vs-cnv snp data rare diseases trio analysis secondary analysis annotation catalog vswarehouse agrigenomics genomic analysis splice site variants pathogenicity gene fusions indels snps diagnostic clinical reports probe desnities twist biosciences twist pac bio pacbio snvs prs polygenic risk score carrier screening oncogenic variants oncogenic oncgenic onco clinical ongenic varseq 2.5.0 ngs workflow ngs validation couple workflows small variants medelian disorders assays wes automation cancerkb 2.0 coverage statistics cram tso500 illumina family var copy number variant dragen software development science research database pca goldenhelix clingen warehousing solutions single nucleotide variants variant anaysis clinvar dna analysis loss of function dr. robert hamilton sickkids pcr tests viral infection sars-cov-2 covid19 covid-19 match gene lists count alleles phorank dbnsfp cosmic and civic omim gnomad clinical trials patient-linked data firewall medical records healthcare cyber security tumor-normal sentieon chromosomal microarrays cattle dataset k-fold beagle imputation vsreports loss of homozygosity loh variants wisp3 mutation alopecia reza sailani stanford university department of genetics genetic software inheritance patterns vcf hereditary disease large-n bayes c-pi bayes c phenotypic traits inherited diseases virtus diagnostics catfish digital health university of british columbia mark trinder research translation cosmic prognostic clinical reports molecular therapy biomarkers
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