Dissection of contiguous gene effects for deletions around ERF on chromosome 19
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24213
Abstract: Heterozygous intragenic loss‐of‐function mutations of ERF, encoding an ETS transcription factor, were previously reported to cause a novel craniosynostosis syndrome, suggesting that ERF is haploinsufficient. We describe six families harboring heterozygous deletions including, or near… read more here.
Keywords: deletions around; contiguous gene; gene effects; gene ... See more keywords
GIFT: new method for the genetic analysis of small gene effects involving small sample sizes
Sign Up to like & getrecommendations! Published in 2022 at "Physical Biology"
DOI: 10.1088/1478-3975/ac99b3
Abstract: Small gene effects involved in complex/omnigenic traits remain costly to analyse using current genome-wide association studies (GWAS) because of the number of individuals required to return meaningful association(s), a.k.a. study power. Inspired by field theory… read more here.
Keywords: gene effects; small gene; gift; method ... See more keywords