Mar Gonzàlez-Porta

TL;DR: Se sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project—the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences discover extremely widespread genetic variation affecting the regulation of most genes.

TL;DR: The new version of Expression Atlas introduces the concept of ‘baseline’ expression, i.e. gene and splice variant abundance levels in healthy or untreated conditions, such as tissues or cell types, in order to maximize the biological value provided to the user.

TL;DR: This work provides guidance on how to match variant calls with different representations, define standard performance metrics, and stratify performance by variant type and genome context, and describes limitations of high-confidence calls and regions that can be used as truth sets.

TL;DR: The findings suggest that the transcriptome from protein coding loci is dominated by one transcript per gene and that not all the transcripts that contribute to transcriptome diversity are equally likely to contribute to protein diversity.

TL;DR: The results show that the processes underlyingccRCC tumorigenesis may vary in different populations and suggest that AA may be an important ccRCC carcinogen in Romania, a finding with major public health implications.