Growing evidence suggests that human gene annotation remains incomplete; however, it is unclear how this affects different tissues and our understanding of different disorders. A team led by researchers at University College London detect...
Read More »RNA-Seq reveals mutations that crop up in normal cells as we age
Analyzing RNA sequencing data pinpoints ‘somatic clones,’ including some harboring cancer mutations, in many types of normal tissue. Cell division is not perfect. As we get older, mutations often appear in genes in normal cells. Most of these mutated cells ...
Read More »Genotype Tissue Expression (GTEx) Project Community Meeting
Enhancing the Usage of Human Genomics for the benefit of all April 20-21, 2017 The GTEx Community meeting is held annually and is open to the scientific community who are interested in learning more about the project and data, or ...
Read More »Flexible expressed region analysis for RNA-seq with derfinder
Differential expression analysis of RNA sequencing (RNA-seq) data typically relies on reconstructing transcripts or counting reads that overlap known gene structures. Researchers at Johns Hopkins University previously introduced an intermediate statistical approach called differentially expressed region (DER) finder that seeks ...
Read More »GTEx publishes results from RNA-Seq pilot study
Human genomes show extensive genetic variation across individuals, but we have only just started documenting the effects of this variation on the regulation of gene expression. Furthermore, only a few tissues have been examined per genetic variant. In order to ...
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