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Did you mean Whole-Exome Sequencing?

Glossary Whole-Exome Sequencing

sequencing all protein-coding regions of genes in a genome

Whole-Exome Sequencing (WES) is a genomic technique that involves sequencing all the protein-coding regions of genes in a genome, known as exons. These regions make up about 1-2% of the human genome but contain around 85% of known disease-related genetic variants, making WES a powerful tool for identifying genetic mutations associated with various conditions, including alopecia.

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Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment

research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment

13 citations , October 2024 in “Scientific Reports”

In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.

research Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82

9 citations , February 2022 in “Nature communications”

This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.

research Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment

June 2024 in “Research Square (Research Square)”

This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.

research 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82

June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.

Multi-Ancestry Tandem Repeat Association Study of Hair Color Using Exome-Wide Sequencing

research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing

February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)”

This study found that certain tandem repeats predict darker hair color across diverse ancestry groups and can contribute to a polygenic score for hair color, independent of SNP variation.

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