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Article

Next-generation sequencing applied to rare diseases genomics.

Expert review of molecular diagnostics - 1 May 2014

Danielsson Krissi, Mun Liew Jun, Lordemann Amanda, Mao Jimmy, Lin Cheng-Ho Jimmy

Abstract excerpt

Genomics has revolutionized the study of rare diseases. In this review, we overview the latest technological development, rare disease discoveries, implementation obstacles and bioethical challenges. First, we discuss the technology of genome and exome sequencing, including the different next-generation platforms and exome enrichment technologies. Second, we survey the pioneering centers and discoveries for rare...

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Identifiers

PMID: 24702023
DOI: 10.1586/14737159.2014.904749

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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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