[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 …

From genotype to phenotype: genetics of mammalian long non-coding RNAs in vivo

D Andergassen, JL Rinn - Nature Reviews Genetics, 2022 - nature.com
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 …

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 …

Phased diploid genome assemblies and pan-genomes provide insights into the genetic history of apple domestication

X Sun, C Jiao, H Schwaninger, CT Chao, Y Ma… - Nature …, 2020 - nature.com
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 …

Genomic–transcriptomic evolution in lung cancer and metastasis

C Martínez-Ruiz, JRM Black, C Puttick, MS Hill… - Nature, 2023 - nature.com
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 …

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 …

A compendium of genetic regulatory effects across pig tissues

J Teng, Y Gao, H Yin, Z Bai, S Liu, H Zeng… - Nature …, 2024 - nature.com
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 …

[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 …

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 …

GDF15 linked to maternal risk of nausea and vomiting during pregnancy

M Fejzo, N Rocha, I Cimino, SM Lockhart, CJ Petry… - Nature, 2024 - nature.com
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 …