Article

<i>seqr</i> : a web-based analysis and collaboration tool for rare disease genomics

2021-10-28

Abstract excerpt

Exome and genome sequencing have become the tools of choice for rare disease diagnosis, leading to large amounts of data available for analyses. To identify causal variants in these datasets, powerful filtering and decision support tools that can be efficiently used by clinicians and researchers are required. To address this need, we developed seqr - an open source, web-based tool for family-based monogenic diseas...

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Literature Corpus work: 417ce5c1-5e4f-5003-b8d6-c6fce0ed73ab
DOI: 10.1101/2021.10.27.21265326

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