Accès ouvert
2026
preprint
OpenAlex
Molly F. Sacks, Marieke Klein, Tim Bigdeli, Mart Kals et autres
Complex traits arise from the combined effects of rare and common genetic variation, development and environment, but resolving their joint contributions has been limited by statistical power. Here, we meta-analyze effects of recurrent copy number variants (CNVs), polygenic scores, sex, age and …
us, nl, ee, ca, gb, be, au
(code pays fourni par la source)
Accès ouvert
2026
preprint
OpenAlex
Aidan O’Brien, Hyunkyung Kong, Harsh Patel, Michelle Ho et autres
Abstract Chromosome 5p15.33 harbors several independent association signals which demonstrate antagonistic pleiotropy across cancer types, with causal mechanisms largely unresolved. To identify functional variants and enhancer elements at this locus, we performed statistical fine-mapping followed by massively parallel reporter assays (MPRA) and …
gb, us, fr, ca, au
(code pays fourni par la source)
2026
article
OpenAlex
S. L. Davis, Aoxing Liu, Craig C. Teerlink, Dana Lapato et autres
Sex chromosome trisomies (SCTs), caused by the presence of an extra X or Y chromosome, are among the most common chromosomal abnormalities but remain substantially underrecognized. Klinefelter syndrome (47,XXY) is the most frequently diagnosed SCT and, as a result, has been the …
us, fi, gr
(code pays fourni par la source)