Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity-Reference-Cited by-同舟云学术

Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity

Published:2022-12 Issue:12 Volume:109 Page:2210-2229
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Long Erping,Yin Jinhu,Funderburk Karen M.,Xu Mai,Feng James,Kane Alexander,Zhang Tongwu,Myers Timothy,Golden Alyxandra,Thakur Rohit,Kong Hyunkyung,Jessop Lea,Kim Eun Young,Jones Kristine,Chari Raj,Machiela Mitchell J.,Yu Kai,Iles Mark M.,Landi Maria Teresa,Law Matthew H.,Chanock Stephen J.,Brown Kevin M.,Choi Jiyeon^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference61 articles.

1. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility;Landi;Nat. Genet.,2020

2. From melanocytes to melanomas;Shain;Nat. Rev. Cancer,2016

3. The global burden of melanoma: results from the Global Burden of Disease Study 2015;Karimkhani;Br. J. Dermatol.,2017

4. Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles;Beaumont;Hum. Mol. Genet.,2007

5. HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter;Visser;Genome Res.,2012

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