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VarFish - Collaborative and Comprehensive Variant Analysis for Diagnosis and Research

2020-01-31

Abstract excerpt

<h4>ABSTRACT</h4> VarFish is a user-friendly web application for the quality control, filtering, prioritization, analysis, and user-based annotation of panel and exome variant data for rare disease genetics. It is capable of processing variant call files with single or multiple samples. The variants are automatically annotated with population frequencies, molecular impact, and presence in databases such as ClinVa...

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Literature Corpus work
1662e2bf-21a0-5a80-982d-8f8cb4dfabc8
DOI
10.1101/2020.01.27.921965
Open publication

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VarFish - Collaborative and Comprehensive Variant Analysis for Diagnosis and ResearchDOI 10.1101/2020.01.27.921965
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