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Article

Clinical sequencing: From raw data to diagnosis with lifetime value.

Clinical genetics - 1 Mar 2018

Caspar S M, Dubacher N, Kopps A M, Meienberg J, Henggeler C, Matyas G

Abstract excerpt

High-throughput sequencing (HTS) has revolutionized genetics by enabling the detection of sequence variants at hitherto unprecedented large scale. Despite these advances, however, there are still remaining challenges in the complete coverage of targeted regions (genes, exome or genome) as well as in HTS data analysis and interpretation. Moreover, it is easy to get overwhelmed by the plethora of available methods...

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PMID: 29206278
DOI: 10.1111/cge.13190

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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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