Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases

The Journal of Investigative Dermatology
Hassan VahidnezhadJouni Uitto

Abstract

Homozygosity mapping (HM), also known as autozygosity mapping, was originally used to map genes underlying homozygous autosomal recessive Mendelian diseases in patients from closely genetically related populations, followed by Sanger sequencing. With the increase in use of next-generation sequencing approaches, such as whole-exome sequencing and whole-genome sequencing, together with advanced bioinformatics filtering approaches, HM is again emerging as a powerful method for the identification of genes involved in disease etiology. In addition to its usefulness for research, HM is effective in clinical genetic services, increasing the efficiency of molecular diagnostics. For autosomal recessive Mendelian disorders with extensive genetic heterogeneity, HM can reduce both cost and turnaround time of mutation detection in the context of next-generation sequencing and can obviate expensive screening, such as biochemical testing in the setting of metabolic genodermatoses or antigen mapping for epidermolysis bullosa. It is therefore important for dermatology clinicians and researchers to understand the processes, principal uses, and advantages and limitations of HM when ordering or performing genetic tests for patients affected by her...Continue Reading

Citations

Feb 20, 2019·Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America·Leila YoussefianJouni Uitto
May 16, 2019·The British Journal of Dermatology·C HasG Zambruno
Mar 15, 2020·Journal of Clinical Immunology·Vahid ZiaeeJouni Uitto
Oct 9, 2020·Dermatologic Therapy·Elham BehrangiJouni Uitto
Jan 11, 2021·The Journal of Investigative Dermatology·Leila YoussefianJouni Uitto
May 25, 2020·The Journal of Investigative Dermatology·Amir Hossein SaeidianJouni Uitto
May 19, 2021·Matrix Biology : Journal of the International Society for Matrix Biology·Hassan VahidnezhadJouni Uitto
Jul 3, 2021·NeoReviews·Anne W LuckyEmily Gorell
Dec 7, 2018·The Journal of Investigative Dermatology·Hassan VahidnezhadJouni Uitto
Dec 5, 2021·Journal of the European Academy of Dermatology and Venereology : JEADV·L YoussefianJ Uitto

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