Sentences with phrase «noncoding mutations»
Understanding the role of these noncoding mutations is a «challenging task,» says Ivan Iossifov, associate professor at Cold Spring Harbor Laboratory in New York, who was not involved in the study.
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«The elephant results revealed noncoding sequences in the human genome that we predict may control gene activity and reduce the formation of mutations and cancer.»
An oncogenic super-enhancer formed through somatic mutation of a noncoding intergenic element
Most of the mutations identified in the new work land in genes, but some affect noncoding regions of the genome.
At first, Sprecher suspected that either they had performed the genetic analysis incorrectly or the missing mutation was hiding in a noncoding or «junk» region of the genome.
The team then bred the mice and checked their offspring for DNA mutations.The mice born to males that breathed unfiltered air had up to 2.8 times more mutations in particular stretches of noncoding DNA than did mice with fathers that breathed filtered air, or clean air at a rural site.
But full sequencing will soon be just as cheap as exome sequencing and will catch disease mutations in noncoding regions as well, Gibbs notes.
One of the noncoding de novo mutations was 254 kilobases downstream of FGFR2, in a noncoding region that looks (according to chromatin marks) like a neural crest enhancer.
The researchers zeroed in on a single - nucleotide polymorphism (SNP) that appeared to be the causal mutation, typically consisting of an adenine nucleotide but appearing as a guanine nucleotide in roughly a third of the population, located in a region of noncoding DNA that falls within the PHACTR1 gene.