Tag Archives: exome

Whole exome sequencing has had low uptake in livestock species, despite allowing accurate analysis of single nucleotide variant (SNV) mutations. Transcriptomic data in the form of RNA sequencing has been generated for many livestock species and also represents a source ...

from SFARI by Kate Yandell Small pieces of DNA within genes, dubbed ‘microexons,’ are abnormally regulated in people with autism, suggests a study of postmortem brains published 18 December in Cell1. These sequences, some as short as three nucleotides, moderate ...

Interpretation of variants present in complete genomes or exomes reveals numerous sequence changes, only a fraction of which are likely to be pathogenic. Mutations have been traditionally inferred from allele frequencies and inheritance patterns in such data. Variants predicted to ...