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 …
Mendelian inheritance revisited: dominance and recessiveness in medical genetics
J Zschocke, PH Byers, AOM Wilkie - Nature Reviews Genetics, 2023 - nature.com
Understanding the consequences of genotype for phenotype (which ranges from molecule-
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …
Ensembl 2023
FJ Martin, MR Amode, A Aneja… - Nucleic acids …, 2023 - academic.oup.com
Abstract Ensembl (https://www. ensembl. org) has produced high-quality genomic resources
for vertebrates and model organisms for more than twenty years. During that time, our …
for vertebrates and model organisms for more than twenty years. During that time, our …
Evidence for 28 genetic disorders discovered by combining healthcare and research data
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …
disorders. However, genes known to be associated with developmental disorders account …
Rare variant associations with plasma protein levels in the UK Biobank
Integrating human genomics and proteomics can help elucidate disease mechanisms,
identify clinical biomarkers and discover drug targets,,–. Because previous proteogenomic …
identify clinical biomarkers and discover drug targets,,–. Because previous proteogenomic …
Incomplete penetrance and variable expressivity: from clinical studies to population cohorts
R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
Mendelian gene discovery: fast and furious with no end in sight
Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding
genome function. Approaches based on next-generation sequencing applied at scale have …
genome function. Approaches based on next-generation sequencing applied at scale have …
The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy
Premature termination codons (PTCs) can result in the production of truncated proteins or
the degradation of messenger RNAs by nonsense-mediated mRNA decay (NMD). Which of …
the degradation of messenger RNAs by nonsense-mediated mRNA decay (NMD). Which of …
Genomic landscape and mutational signatures of deafness-associated genes
The classification of genetic variants represents a major challenge in the post-genome era
by virtue of their extraordinary number and the complexities associated with ascribing a …
by virtue of their extraordinary number and the complexities associated with ascribing a …
Insights into genetics, human biology and disease gleaned from family based genomic studies
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …
conditions informs biology and medicine, yet potential phenotypic consequences for …