Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease
Aberrant splicing underlies many human diseases, including cancer, cardiovascular
diseases and neurological disorders. Genome-wide mapping of splicing quantitative trait …
diseases and neurological disorders. Genome-wide mapping of splicing quantitative trait …
[HTML][HTML] eQTL studies: from bulk tissues to single cells
An expression quantitative trait locus (eQTL) is a chromosomal region where genetic
variants are associated with the expression levels of specific genes that can be both nearby …
variants are associated with the expression levels of specific genes that can be both nearby …
Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity
E Long, J Yin, KM Funderburk, M Xu, J Feng… - The American Journal of …, 2022 - cell.com
The most recent genome-wide association study (GWAS) of cutaneous melanoma identified
54 risk-associated loci, but functional variants and their target genes for most have not been …
54 risk-associated loci, but functional variants and their target genes for most have not been …
meQTL mapping in the GENOA study reveals genetic determinants of DNA methylation in African Americans
Identifying genetic variants that are associated with variation in DNA methylation, an
analysis commonly referred to as methylation quantitative trait locus (meQTL) mapping, is an …
analysis commonly referred to as methylation quantitative trait locus (meQTL) mapping, is an …
Genetic risk of osteoarthritis operates during human skeletogenesis
SJ Rice, A Brumwell, J Falk… - Human Molecular …, 2023 - academic.oup.com
Osteoarthritis (OA) is a polygenic disease of older people resulting in the breakdown of
cartilage within articular joints. Although it is a leading cause of disability, there are no …
cartilage within articular joints. Although it is a leading cause of disability, there are no …
ezQTL: a web platform for interactive visualization and colocalization of QTLs and GWAS loci
Genome-wide association studies (GWAS) have identified thousands of genomic loci
associated with complex diseases and traits, including cancer. The vast majority of common …
associated with complex diseases and traits, including cancer. The vast majority of common …
Genetic effects on the skin methylome in healthy older twins
CJ Shore, S Villicaña, JSES Moustafa… - The American Journal of …, 2024 - cell.com
Whole-skin DNA methylation variation has been implicated in several diseases, including
melanoma, but its genetic basis has not yet been fully characterized. Using bulk skin tissue …
melanoma, but its genetic basis has not yet been fully characterized. Using bulk skin tissue …
Functional analysis of recurrent CDC20 promoter variants in human melanoma
PM Godoy, A Oyedeji, JL Mudd, VA Morikis… - Communications …, 2023 - nature.com
Small nucleotide variants in non-coding regions of the genome can alter transcriptional
regulation, leading to changes in gene expression which can activate oncogenic gene …
regulation, leading to changes in gene expression which can activate oncogenic gene …
Investigating the genetic architecture of eye colour in a Canadian cohort
Eye color is highly variable in populations with European ancestry, ranging from low to high
quantities of melanin in the iris. Polymorphisms in the HERC2/OCA2 locus have the largest …
quantities of melanin in the iris. Polymorphisms in the HERC2/OCA2 locus have the largest …
A large Canadian cohort provides insights into the genetic architecture of human hair colour
Hair colour is a polygenic phenotype that results from differences in the amount and ratio of
melanins located in the hair bulb. Genome-wide association studies (GWAS) have identified …
melanins located in the hair bulb. Genome-wide association studies (GWAS) have identified …