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Article

Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.

Frontiers in endocrinology - 1 Jan 2020

McInerney-Leo Aideen M, Duncan Emma L

Abstract excerpt

There have been two major eras in the history of gene discovery. The first was the era of linkage analysis, with approximately 1,300 disease-related genes identified by positional cloning by the turn of the millennium. The second era has been powered by two major breakthroughs: the publication of the human genome and the development of massively parallel sequencing (MPS). MPS has greatly accelerated disease gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33679611
DOI: 10.3389/fendo.2020.628946
PMCID: PMC7933540

Provenance

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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