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Article

Predicting the Pathogenic Impact of Sequence Variation in the Human Genome.

Studies in health technology and informatics - 1 Jan 2017

Rogers Mark F, Shihab Hashem A, Ferlaino Michael, Gaunt Tom R, Campbell Colin

Abstract excerpt

Sequencing data will become widely available in clinical practice within the near future. Uptake of sequence data is currently being stimulated within the UK through the government-funded 100,000 genomes project (Genomics England), with many similar initiatives being planned and supported internationally. The analysis of the large volumes of data derived from sequencing programmes poses a major challenge for data...

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PMID: 28423762

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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