Alternative splicing as a source of phenotypic diversity
A major goal of evolutionary genetics is to understand the genetic processes that give rise to
phenotypic diversity in multicellular organisms. Alternative splicing generates multiple …
phenotypic diversity in multicellular organisms. Alternative splicing generates multiple …
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation …
PD Stenson, M Mort, EV Ball, K Evans, M Hayden… - Human genetics, 2017 - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …
collection of published germline mutations in nuclear genes that underlie, or are closely …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
Nanopore native RNA sequencing of a human poly (A) transcriptome
High-throughput complementary DNA sequencing technologies have advanced our
understanding of transcriptome complexity and regulation. However, these methods lose …
understanding of transcriptome complexity and regulation. However, these methods lose …
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 …
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for
classifying variants based on several benign and pathogenic evidence criteria, including a …
classifying variants based on several benign and pathogenic evidence criteria, including a …
Nonsense-mediated RNA decay: an emerging modulator of malignancy
K Tan, DG Stupack, MF Wilkinson - Nature Reviews Cancer, 2022 - nature.com
Nonsense-mediated RNA decay (NMD) is a highly conserved RNA turnover pathway that
selectively degrades RNAs harbouring truncating mutations that prematurely terminate …
selectively degrades RNAs harbouring truncating mutations that prematurely terminate …
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 …
To NMD or not to NMD: nonsense-mediated mRNA decay in cancer and other genetic diseases
The nonsense-mediated mRNA decay (NMD) pathway degrades some but not all mRNAs
bearing premature termination codons (PTCs). Decades of work have elucidated the …
bearing premature termination codons (PTCs). Decades of work have elucidated the …
Landscape of X chromosome inactivation across human tissues
X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes
in female mammalian cells to balance expression dosage between XX females and XY …
in female mammalian cells to balance expression dosage between XX females and XY …