Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.
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ABSTRACT:
SUBMITTER: Castaneda-Garcia C
PROVIDER: S-EPMC9433725 | biostudies-literature | 2022 Aug
REPOSITORIES: biostudies-literature
Publications
Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.
Castaneda-Garcia Carolina C Iyer Vivek V Nsengimana Jérémie J Trower Adam A Droop Alastair A Brown Kevin M KM Choi Jiyeon J Zhang Tongwu T Harland Mark M Newton-Bishop Julia A JA Bishop D Timothy DT Adams David J DJ Iles Mark M MM Robles-Espinoza Carla Daniela CD
Human molecular genetics 20220801 17
A number of genomic regions have been associated with melanoma risk through genome-wide association studies; however, the causal variants underlying the majority of these associations remain unknown. Here, we sequenced either the full locus or the functional regions including exons of 19 melanoma-associated loci in 1959 British melanoma cases and 737 controls. Variant filtering followed by Fisher's exact test analyses identified 66 variants associated with melanoma risk. Sequential conditional l ...[more]
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