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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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    1. Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82 Nature communications · 2022 · 9 citations
    2. 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82 2020
    3. Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study Journal of Translational Genetics and Genomics · 2020 · 1 citations
    4. 303 The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank Journal of Investigative Dermatology · 2022
    5. ESDR303 – The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank 2022
    6. Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data BMC Genomics · 2020 · 37 citations
    7. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2 Journal of Dermatological Science · 2015
    8. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    9. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    10. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes European Journal of Human Genetics · 2019 · 36 citations
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