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Antonarakis SE. History of the methodology of disease gene identification. Am J Med Genet A. 2021;185(11):3266-3275doi: 10.1002/ajmg.a.62400.
Antonarakis, S. E. (2021). History of the methodology of disease gene identification. American journal of medical genetics. Part A, 185(11), 3266-3275. https://doi.org/10.1002/ajmg.a.62400
Antonarakis, Stylianos E. "History of the methodology of disease gene identification." American journal of medical genetics. Part A vol. 185,11 (2021): 3266-3275. doi: https://doi.org/10.1002/ajmg.a.62400
Antonarakis SE. History of the methodology of disease gene identification. Am J Med Genet A. 2021 Nov;185(11):3266-3275. doi: 10.1002/ajmg.a.62400. Epub 2021 Jun 23. PMID: 34159713; PMCID: PMC8596769.
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Am J Med Genet A. 2021 Nov;185(11):3266-3275. doi: 10.1002/ajmg.a.62400. Epub 2021 Jun 23.

History of the methodology of disease gene identification.

American journal of medical genetics. Part A

Stylianos E Antonarakis

Affiliations

  1. University of Geneva Medical School, Geneva, Switzerland.
  2. Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.

PMID: 34159713 PMCID: PMC8596769 DOI: 10.1002/ajmg.a.62400

Abstract

The past 45 years have witnessed a triumph in the discovery of genes and genetic variation that cause Mendelian disorders due to high impact variants. Important discoveries and organized projects have provided the necessary tools and infrastructure for the identification of gene defects leading to thousands of monogenic phenotypes. This endeavor can be divided in three phases in which different laboratory strategies were employed for the discovery of disease-related genes: (i) the biochemical phase, (ii) the genetic linkage followed by positional cloning phase, and (iii) the sequence identification phase. However, much more work is needed to identify all the high impact genomic variation that substantially contributes to the phenotypic variation.

© 2021 The Author. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.

Keywords: Mendelian disorders; gene identification; genetic methods; genomic variants

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