Human gain-of-function (GOF) and loss-of-function (LOF) pathogenic variants: a resource of all currently known human GOF and LOF germline variants, and their associated discriminative features.

Network-based heterogeneity clustering (NHC): a method complementary to traditional gene-burden and association case-control analysis, where disease-causing genes are identified by clustering based on biological relatedness. This approach is also highly effective in small and medium cohorts of tens of patients or more.

A blacklist of non-pathogenic variants: a pre-calculated list of variants that are common in exomes of patients but absent from public databases, including a software to generate in-house blacklists from patients’ NGS cohorts. Removing blacklist variants from NGS analyses filters out a median of 62% of non-pathogenic variants in patients, with very low false negative rates.

Visualizing population genetics (PopViz): visualizing genetic variants in genes of interest by damage prediction scores, allele frequencies, and by specific populations.

Easy online extraction of DNA and protein sequences from NGS VCF files (SeqTailor) and by genomic coordinates.

Other software:

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