Differential Allele-Specific Expression Uncovers Breast Cancer Genes Dysregulated by Cis Noncoding Mutations.
Sign Up to like & getrecommendations! Published in 2020 at "Cell systems"
DOI: 10.1016/j.cels.2020.01.002
Abstract: Identifying cancer-relevant mutations in noncoding regions is challenging due to the large numbers of such mutations, their low levels of recurrence, and difficulties in interpreting their functional impact. To uncover genes that are dysregulated due… read more here.
Keywords: noncoding mutations; ase; allele specific; cancer ... See more keywords
Genes dysregulated in the blood of people with Williams syndrome are enriched in protein-coding genes positively selected in humans.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103828
Abstract: Williams syndrome is a complex condition resulting from the heterozygous deletion of nearly 30 genes in chromosome 7. However, precise genotype-to-phenotype mappings are not available for most of its distinctive features. Because WS entails changes… read more here.
Keywords: enriched protein; protein coding; williams syndrome; dysregulated blood ... See more keywords