Article

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

2018-09-13

Abstract excerpt

<h4>Purpose</h4> We aimed to develop an efficient, flexible, scalable and evidence-based approach to sequence-based diagnostic analysis/re-analysis of conditions with very large numbers of different causative genes. We then wished to define the expected rate of plausibly causative variants coming through strict filtering in control in comparison to disease populations to quantify background diagnostic “noise”. <h...

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Literature Corpus work: 09ea8179-d36d-52db-ace8-9aef8501ad6e
DOI: 10.1101/416552

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