Alexis Allot, Chih-Hsuan Wei, Lon Phan, Timothy Hefferon, Melissa Landrum, Heidi L. Rehm & Zhiyong Lu
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Keeping up with the latest variant-related research is vital for genomic medicine. Here we present LitVar 2.0, a significantly improved web-based system to accurately search for genetic variants in the unstructured literature. LitVar 2.0 provides a unified search of full text and supplementary data, and improved variant recognition accuracy.
The identification, curation and interpretation of genomic variants has a crucial role in the diagnosis and clinical care of individuals with genetic diseases and related research. Variant databases such as ClinVar1, Human Gene Mutation Database (HGMD)2 and Leiden Open Variant Database (LOVD)3 provide interpretation of genetic variants, but the information they contain is often incomplete due to the sheer volume and rapid growth of medical literature and the high cost of expert curation.
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