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Exomiser ⭐ 174

A Tool to Annotate and Prioritize Exome Variants

Classifycnv ⭐ 43

ClassifyCNV: a tool for clinical annotation of copy-number variants

Variantvalidator ⭐ 41

Public repository for VariantValidator project

An Artificial Neural Network-based discriminator for validating clinically significant genomic variants

Smart Variant Filtering ⭐ 29

Sv Benchmark ⭐ 23

Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data

1000 Genomes Genetic Maps ⭐ 23

Genetic maps interpolated to sites in the 1000 Genomes project

dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCFs) created by DeepVariants are then co_called together using GATK[2]. The resultant trio VCF is then post-processing with FamSeq[3] to eliminate mendelian errors.

Sentieon Dnascope Ml ⭐ 7

Sentieon DNAscope + Machine Learning Model

Rest_variantvalidator ⭐ 6

REST Interface for VariantValidator. Includes docker container

These scripts reformat a VCF into a SQLite database, with R

TreeMap: A Structured Approach to Fine Mapping of eQTL Variants

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