Homozygosity mapping: a game-changer for autosomal recessive diseases

In this Journal Club article, Fowzan Alkuraya describes how a paper outlining the mathematical foundations of homozygosity mapping provided a route to disease gene identification that still benefits his patients in clinical practice today.

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Bibliographic Details
Published in:Nature reviews. Genetics 2022-01, Vol.23 (1), p.2-3
Main Author: Alkuraya, Fowzan S
Format: Article
Language:English
Subjects:
Chromosome Mapping - methods
Chromosomes
Disease
Disease - genetics
Gene mapping
Genes
Genes, Recessive - genetics
Genetic Predisposition to Disease - genetics
Genetics
Genomes
Homozygote
Humans
Laboratories
Microscopy
Parents & parenting
Patients
Physiology
Polymorphism, Restriction Fragment Length - genetics
Reproducibility of Results
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Description
Summary:In this Journal Club article, Fowzan Alkuraya describes how a paper outlining the mathematical foundations of homozygosity mapping provided a route to disease gene identification that still benefits his patients in clinical practice today.
ISSN:1471-0056
1471-0064
DOI:10.1038/s41576-021-00433-w