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DaMold: A data-mining platform for variant annotation and visualization in molecular diagnostics research.

Human mutation - 1 Jul 2017

Pandey Ram Vinay, Pabinger Stephan, Kriegner Albert, Weinhäusel Andreas

Abstract excerpt

Next-generation sequencing (NGS) has become a powerful and efficient tool for routine mutation screening in clinical research. As each NGS test yields hundreds of variants, the current challenge is to meaningfully interpret the data and select potential candidates. Analyzing each variant while manually investigating several relevant databases to collect specific information is a cumbersome and time-consuming...

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PMID: 28397319
DOI: 10.1002/humu.23227

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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