An expanded sequence context model broadly explains variability in polymorphism levels across the human genome
V Aggarwala, BF Voight - Nature genetics, 2016 - nature.com
The rate of single-nucleotide polymorphism varies substantially across the human genome
and fundamentally influences evolution and incidence of genetic disease. Previous studies …
and fundamentally influences evolution and incidence of genetic disease. Previous studies …
Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
A detailed understanding of the genome-wide variability of single-nucleotide germline
mutation rates is essential to studying human genome evolution. Here, we use~ 36 million …
mutation rates is essential to studying human genome evolution. Here, we use~ 36 million …
Excessive G–U transversions in novel allele variants in SARS-CoV-2 genomes
AY Panchin, YV Panchin - PeerJ, 2020 - peerj.com
Background SARS-CoV-2 is a novel coronavirus that causes COVID-19 infection, with a
closest known relative found in bats. For this virus, hundreds of genomes have been …
closest known relative found in bats. For this virus, hundreds of genomes have been …
Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects
A Morales-Piga, J Bachiller-Corral, MJ Trujillo-Tiebas… - Bone, 2012 - Elsevier
We aimed to investigate the epidemiological determinants, clinical features, and genetic
pattern of FOP in our country by evaluating the entire population of patients identified …
pattern of FOP in our country by evaluating the entire population of patients identified …
Interaction-based evolution: how natural selection and nonrandom mutation work together
A Livnat - Biology direct, 2013 - Springer
Background The modern evolutionary synthesis leaves unresolved some of the most
fundamental, long-standing questions in evolutionary biology: What is the role of sex in …
fundamental, long-standing questions in evolutionary biology: What is the role of sex in …
Heterogeneity of the Transition/Transversion Ratio in Drosophila and Hominidae Genomes
VB Seplyarskiy, P Kharchenko… - Molecular biology …, 2012 - academic.oup.com
Mutation rate varies between sites in the genome. Part of this variation can be explained by
well-recognized short nucleotide contexts, but a large component of this variation remains …
well-recognized short nucleotide contexts, but a large component of this variation remains …
Preservation of methylated CpG dinucleotides in human CpG islands
Background CpG dinucleotides are extensively underrepresented in mammalian genomes.
It is widely accepted that genome-wide CpG depletion is predominantly caused by an …
It is widely accepted that genome-wide CpG depletion is predominantly caused by an …
The somatic autosomal mutation matrix in cancer genomes
DNA damage in somatic cells originates from both environmental and endogenous sources,
giving rise to mutations through multiple mechanisms. When these mutations affect the …
giving rise to mutations through multiple mechanisms. When these mutations affect the …
Neighbor preferences of amino acids and context-dependent effects of amino acid substitutions in human, mouse, and dog
Amino acids show apparent propensities toward their neighbors. In addition to preferences
of amino acids for their neighborhood context, amino acid substitutions are also considered …
of amino acids for their neighborhood context, amino acid substitutions are also considered …
Comparative Analysis of Context‐Dependent Mutagenesis Using Human and Mouse Models
SA Medvedeva, AY Panchin… - BioMed Research …, 2013 - Wiley Online Library
Substitution rates strongly depend on their nucleotide context. One of the most studied
examples is the excess of C> T mutations in the CG context in various groups of organisms …
examples is the excess of C> T mutations in the CG context in various groups of organisms …