With next generation sequencing, you can generate piles of sequence data. To avoid the possible bottleneck of bioinformatics and data analysis, we offer several solutions to ease your research and diagnostics:
Human Genetics & Oncology – Clinically certified data analysis
Varsome Clinical
Varsome Clinical – a CE IVD-certified and HIPAA-compliant platform allowing fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels. VarSome Clinical helps molecular geneticists and clinicians increase the diagnostic yield and support treatment decisions for genetic conditions.
- Load the FASTQ or VCF sequence files
- The robust pipeline is capable of analyzing the data for individual samples, trios, families, and cohorts in just minutes
- Dynamic and algorithmic filters allow you to perform simple or advanced filtering
- Proceed with (customizable) complete clinical report generation, which includes all the details of your variants, including literature references and your custom comments.
ACMG classification and constantly updated integration to 70+ databases, including: ClinVar, dbSNP, gnomAD, HPO, MONDO, Ensembl, RefSeq, GWAS, CGD, HGNC, UniGene, Orphanet, CIViC genes, GERP, dbNSFP, COSMIC, IARC TP53, ICGC, Kaviar, DANN scores, CIViC mutations, UniProt variants, UniProt domains, GHR, CPIC, DGV, DECIPHER, ExAC CNVs, ExAC genes, PanelApp, Mondo, PMKB and many more.
With the regular VarSome platform “ The human genetics search engine“ from Saphetor, users of amplicon panels can simply upload their sequencing FASTQ or VCF files into the secure cloud-based VarSome platform and leverage the rich set of features available to analyze and annotate the resulting data.
