Cancer transcriptome profiling at the juncture of clinical translation
M Cieślik, AM Chinnaiyan - Nature Reviews Genetics, 2018 - nature.com
Methodological breakthroughs over the past four decades have repeatedly revolutionized
transcriptome profiling. Using RNA sequencing (RNA-seq), it has now become possible to …
transcriptome profiling. Using RNA sequencing (RNA-seq), it has now become possible to …
The roles of RNA processing in translating genotype to phenotype
KS Manning, TA Cooper - Nature reviews Molecular cell biology, 2017 - nature.com
A goal of human genetics studies is to determine the mechanisms by which genetic variation
produces phenotypic differences that affect human health. Efforts in this respect have …
produces phenotypic differences that affect human health. Efforts in this respect have …
An expanded genome-wide association study of type 2 diabetes in Europeans
To characterize type 2 diabetes (T2D)-associated variation across the allele frequency
spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D …
spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D …
An atlas of alternative polyadenylation quantitative trait loci contributing to complex trait and disease heritability
Genome-wide association studies have identified thousands of noncoding variants
associated with human traits and diseases. However, the functional interpretation of these …
associated with human traits and diseases. However, the functional interpretation of these …
Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs
Genome-wide association studies have identified thousands of genetic variants that are
associated with disease. Most of these variants have small effect sizes, but their downstream …
associated with disease. Most of these variants have small effect sizes, but their downstream …
Systematic identification of trans eQTLs as putative drivers of known disease associations
Identifying the downstream effects of disease-associated SNPs is challenging. To help
overcome this problem, we performed expression quantitative trait locus (eQTL) meta …
overcome this problem, we performed expression quantitative trait locus (eQTL) meta …
[HTML][HTML] From genome to function by studying eQTLs
Genome-wide association studies (GWASs) have shown a large number of genetic variants
to be associated with complex diseases. The identification of the causal variant within an …
to be associated with complex diseases. The identification of the causal variant within an …
Cell specific eQTL analysis without sorting cells
The functional consequences of trait associated SNPs are often investigated using
expression quantitative trait locus (eQTL) mapping. While trait-associated variants may …
expression quantitative trait locus (eQTL) mapping. While trait-associated variants may …
Identification of common genetic variants controlling transcript isoform variation in human whole blood
An understanding of the genetic variation underlying transcript splicing is essential to dissect
the molecular mechanisms of common disease. The available evidence from splicing …
the molecular mechanisms of common disease. The available evidence from splicing …
[HTML][HTML] Refined mapping of autoimmune disease associated genetic variants with gene expression suggests an important role for non-coding RNAs
Genome-wide association and fine-mapping studies in 14 autoimmune diseases (AID) have
implicated more than 250 loci in one or more of these diseases. As more than 90% of AID …
implicated more than 250 loci in one or more of these diseases. As more than 90% of AID …