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Article

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Nature communications - 8 Jul 2022

Michaud Vincent, Lasseaux Eulalie, Green David J, Gerrard Dave T, Plaisant Claudio, Fitzgerald Tomas, Birney Ewan, Arveiler Benoît, Black Graeme C, Sergouniotis Panagiotis I

Abstract excerpt

Genetic diseases have been historically segregated into rare Mendelian disorders and common complex conditions. Large-scale studies using genome sequencing are eroding this distinction and are gradually unmasking the underlying complexity of human traits. Here, we analysed data from the Genomics England 100,000 Genomes Project and from a cohort of 1313 individuals with albinism aiming to gain insights into the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35803923
DOI: 10.1038/s41467-022-31392-3
PMCID: PMC9270319

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.PMID 35803923Read ↗

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