A minimal role for synonymous variation in human disease

Synonymous mutations in representative yeast genes are mostly strongly non-neutral

(2022) Xukang Shen et al.   NATURE

The sequences of 150,119 genomes in the UK Biobank

(2022) Bjarni V. Halldorsson et al.   NATURE

Mutations matter even if proteins stay the same

(2022) Nathaniel Sharp   NATURE

Genome-wide mapping of somatic mutation rates uncovers drivers of cancer

(2022) Maxwell A. Sherman et al.   NATURE BIOTECHNOLOGY

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

(2022) Jack M. Fu et al.   NATURE GENETICS

When Silence Disrupts

(2022) Ryan C. Hunt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

(2021) Daniel Taliun et al.   NATURE

Weak selection on synonymous codons substantially inflates dN/dS estimates in bacteria

(2021) Shakibur Rahman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare variant contribution to human disease in 281,104 UK Biobank exomes

(2021) Quanli Wang et al.   NATURE

Mutation saturation for fitness effects at human CpG sites

(2021) Ipsita Agarwal et al.   eLife

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Natural Selection Shapes Codon Usage in the Human Genome

(2020) Ryan S. Dhindsa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein

(2020) Artem Kim et al.   BRAIN

Evidence for 28 genetic disorders discovered by combining healthcare and research data

(2020) Joanna Kaplanis et al.   NATURE

Translation affects mRNA stability in a codon-dependent manner in human cells

(2019) Qiushuang Wu et al.   eLife

Rare variants contribute disproportionately to quantitative trait variation in yeast

(2019) Joshua S Bloom et al.   eLife

Exonic splice regulation imposes strong selection at synonymous sites

(2018) Rosina Savisaar et al.   GENOME RESEARCH

Genome evolution across 1,011 Saccharomyces cerevisiae isolates

(2018) Jackson Peter et al.   NATURE

Codon optimality, bias and usage in translation and mRNA decay

(2017) Gavin Hanson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

Synonymous Mutations Frequently Act as Driver Mutations in Human Cancers

(2014) Fran Supek et al.   CELL

Identification of deleterious synonymous variants in human genomes

(2013) Orion J. Buske et al.   BIOINFORMATICS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Genetic Architecture of Highly Complex Chemical Resistance Traits across Four Yeast Strains

(2012) Ian M. Ehrenreich et al.   PLoS Genetics

A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease

(2011) Patrick Brest et al.   NATURE GENETICS

A Synonymous Single Nucleotide Polymorphism in ΔF508CFTRAlters the Secondary Structure of the mRNA and the Expression of the Mutant Protein

(2010) Rafal A. Bartoszewski et al.   JOURNAL OF BIOLOGICAL CHEMISTRY