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Article

Extending the allelic spectrum at noncoding risk loci of orofacial clefting.

Human mutation - 1 Aug 2021

Thieme Frederic, Henschel Leonie, Hammond Nigel L, Ishorst Nina, Hausen Jonas, Adamson Antony D, Biedermann Angelika, Bowes John, Zieger Hanna K, Maj Carlo, Kruse Teresa, Buness Andreas, Hoischen Alexander, Gilissen Christian, Kreusch Thomas, Jäger Andreas, Gölz Lina, Braumann Bert, Aldhorae Khalid, Rojas-Martinez Augusto, Krawitz Peter M, Mangold Elisabeth, Dixon Michael J, Ludwig Kerstin U

Abstract excerpt

Genome-wide association studies (GWAS) have generated unprecedented insights into the genetic etiology of orofacial clefting (OFC). The moderate effect sizes of associated noncoding risk variants and limited access to disease-relevant tissue represent considerable challenges for biological interpretation of genetic findings. As rare variants with stronger effect sizes are likely to also contribute to OFC, an...

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PMID: 34004033
DOI: 10.1002/humu.24219

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