[HTML][HTML] Translating RNA sequencing into clinical diagnostics: opportunities and challenges
SA Byron, KR Van Keuren-Jensen… - Nature Reviews …, 2016 - nature.com
With the emergence of RNA sequencing (RNA-seq) technologies, RNA-based biomolecules
hold expanded promise for their diagnostic, prognostic and therapeutic applicability in …
hold expanded promise for their diagnostic, prognostic and therapeutic applicability in …
From genotype to phenotype: genetics of mammalian long non-coding RNAs in vivo
Genome-wide sequencing has led to the discovery of thousands of long non-coding RNA
(lncRNA) loci in the human genome, but evidence of functional significance has remained …
(lncRNA) loci in the human genome, but evidence of functional significance has remained …
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
Phased diploid genome assemblies and pan-genomes provide insights into the genetic history of apple domestication
Domestication of the apple was mainly driven by interspecific hybridization. In the present
study, we report the haplotype-resolved genomes of the cultivated apple (Malus domestica …
study, we report the haplotype-resolved genomes of the cultivated apple (Malus domestica …
Genomic–transcriptomic evolution in lung cancer and metastasis
Intratumour heterogeneity (ITH) fuels lung cancer evolution, which leads to immune evasion
and resistance to therapy. Here, using paired whole-exome and RNA sequencing data, we …
and resistance to therapy. Here, using paired whole-exome and RNA sequencing data, we …
Genetic effects on gene expression across human tissues
GTEx Consortium Lead analysts: Aguet François 1 … - Nature, 2017 - nature.com
Abstract Characterization of the molecular function of the human genome and its variation
across individuals is essential for identifying the cellular mechanisms that underlie human …
across individuals is essential for identifying the cellular mechanisms that underlie human …
A compendium of genetic regulatory effects across pig tissues
Abstract The Farm Animal Genotype-Tissue Expression (FarmGTEx) project has been
established to develop a public resource of genetic regulatory variants in livestock, which is …
established to develop a public resource of genetic regulatory variants in livestock, which is …
[HTML][HTML] Genomic basis for RNA alterations in cancer
PCAWG Transcriptome Core Group Calabrese Claudia … - Nature, 2020 - nature.com
Transcript alterations often result from somatic changes in cancer genomes. Various forms of
RNA alterations have been described in cancer, including overexpression, altered splicing …
RNA alterations have been described in cancer, including overexpression, altered splicing …
Transcriptome variation in human tissues revealed by long-read sequencing
DA Glinos, G Garborcauskas, P Hoffman, N Ehsan… - Nature, 2022 - nature.com
Regulation of transcript structure generates transcript diversity and plays an important role in
human disease,,,,,–. The advent of long-read sequencing technologies offers the opportunity …
human disease,,,,,–. The advent of long-read sequencing technologies offers the opportunity …
GDF15 linked to maternal risk of nausea and vomiting during pregnancy
GDF15, a hormone acting on the brainstem, has been implicated in the nausea and vomiting
of pregnancy, including its most severe form, hyperemesis gravidarum (HG), but a full …
of pregnancy, including its most severe form, hyperemesis gravidarum (HG), but a full …