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Did you mean Whole-Exome Sequencing?

GlossaryWhole-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”

Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.

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

9 citations , February 2022 in “Nature communications”

Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.

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)”

Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.

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)”

Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.

research Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study

1 citations , January 2020 in “Journal of Translational Genetics and Genomics”

Certain genes may help Bulgarians live longer.

research 303 The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank

November 2022 in “Journal of Investigative Dermatology”

Rare genetic variants in 125 genes are linked to male-pattern hair loss.

research ESDR303 – The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank

September 2022

research Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data

37 citations , August 2020 in “BMC Genomics”

Hair greying is mainly influenced by age, with genetics playing a smaller role.

Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability

research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

19 citations , December 2015 in “European Journal of Human Genetics”

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies

3 citations , June 2022 in “European journal of human genetics”

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development

January 2025 in “Case Reports in Genetics”

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix

July 2024 in “British journal of dermatology/British journal of dermatology, Supplement”

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

research Correlation analysis of four KRTAP gene polymorphisms and cashmere fiber diameters in two cashmere goat breeds

September 2022 in “Canadian journal of animal science”

Certain gene variations are linked to the thickness of cashmere goat hair.

research Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome

January 2018 in “Murdoch Research Repository (Murdoch University)”

Improved genetic diagnosis of PCOS can lead to better patient outcomes.

research The role of functional variants in the aetiology of polycystic ovary syndrome

January 2017 in “Murdoch Research Repository (Murdoch University)”

A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.

research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2

May 2015 in “Journal of Dermatological Science”

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

research PLCD1 and Pilar Cysts

5 citations , October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology”

The research linked PLCD1 gene variants to the development of trichilemmal cysts.

research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families

3 citations , February 2020 in “The journal of gene medicine”

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies

2 citations , August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa

September 2024 in “Journal of Medicine and Life”

A specific gene mutation causes a severe skin disorder in a family.

research Utilizing functional genomics approaches to characterize risk genes in alopecia areata

January 2020 in “Columbia Academic Commons (Columbia University)”

Certain genetic changes in the STX17 and KRT82 genes contribute to hair loss in alopecia areata.

research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

119 citations , November 2016 in “American journal of human genetics”

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

55 citations , November 2018 in “American journal of human genetics”

Mutations in the LSS gene cause a rare type of hereditary hair loss.

research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

36 citations , March 2019 in “European Journal of Human Genetics”

The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.

research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants

13 citations , June 2024 in “Frontiers in Genetics”

About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth

10 citations , October 2017 in “Pediatric neurology”

Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.

research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

8 citations , May 2022 in “Orphanet Journal of Rare Diseases”

The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center Within the Middle East and North Africa Region

research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region

January 2025 in “Dermatology Practical & Conceptual”

A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.

research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2

January 2023 in “Revista Paulista de Pediatria”

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

December 2022 in “American journal of medical genetics. Part A”

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.