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Development of an Expert Knowledge-Based Genomic Variant Prioritisation Platform.

Studies in health technology and informatics - 14 Jan 2022

Sucre Aurora, Maclair Gregory, Martinez Iride, Vidales Concha, Epelde Gorka, Garin-Muga Alba

Abstract excerpt

Considering the growing interest towards next generation sequencing (NGS) and data analysis, and the substantial challenges associated to fully exploiting these technologies and data without the proper experience, an expert knowledge-based user-friendly analytical tool was developed to allow non-bioinformatics experts to process NGS genomic data, automatically prioritise genomic variants and make their own...

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PMID: 35062088
DOI: 10.3233/SHTI210855

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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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