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Article

The challenge for the next generation of medical geneticists.

Human mutation - 1 Aug 2014

Frebourg Thierry

Abstract excerpt

Next-generation sequencing (NGS) has allowed a tremendous progress in the characterization of the molecular bases of genetic diseases and the last annual American Society of Human Genetics meeting has highlighted the implementation of whole exome sequencing in medical genetics. Several investigators suggest that it should be medically relevant for each individual to have the exome sequenced. These perspectives do...

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Share to Databases, Genetic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24838402
DOI: 10.1002/humu.22592

Provenance

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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