Hypermutation in human cancer genomes: footprints and mechanisms

SA Roberts, DA Gordenin - Nature Reviews Cancer, 2014 - nature.com
A role for somatic mutations in carcinogenesis is well accepted, but the degree to which
mutation rates influence cancer initiation and development is under continuous debate …

Determinants of mutation rate variation in the human germline

L Ségurel, MJ Wyman… - Annual review of genomics …, 2014 - annualreviews.org
Because germline mutations are the source of all evolutionary adaptations and heritable
diseases, characterizing their properties and the rate at which they arise across individuals …

A method and server for predicting damaging missense mutations

IA Adzhubei, S Schmidt, L Peshkin, VE Ramensky… - Nature …, 2010 - nature.com
2). For instance, in this setting with m= 10 and q= 10, IDA found 4, 4, 5, 1 and 2 true positives
for the five different networks, whereas Lasso found 1, 1, 0, 1 and 2 true positives and Elastic …

Genome-wide patterns and properties of de novo mutations in humans

LC Francioli, PP Polak, A Koren, A Menelaou, S Chun… - Nature …, 2015 - nature.com
Mutations create variation in the population, fuel evolution and cause genetic diseases.
Current knowledge about de novo mutations is incomplete and mostly indirect,,,,,,,,,. Here we …

Lagging-strand replication shapes the mutational landscape of the genome

MAM Reijns, H Kemp, J Ding, S Marion de Procé… - Nature, 2015 - nature.com
The origin of mutations is central to understanding evolution and of key relevance to health.
Variation occurs non-randomly across the genome, and mechanisms for this remain to be …

Understanding type 1 diabetes through genetics: advances and prospects

C Polychronakos, Q Li - Nature Reviews Genetics, 2011 - nature.com
Starting with early crucial discoveries of the role of the major histocompatibility complex,
genetic studies have long had a role in understanding the biology of type 1 diabetes (T1D) …

On the prospect of achieving accurate joint estimation of selection with population history

P Johri, A Eyre-Walker, RN Gutenkunst… - Genome biology and …, 2022 - academic.oup.com
As both natural selection and population history can affect genome-wide patterns of
variation, disentangling the contributions of each has remained as a major challenge in …

Heterogeneous polymerase fidelity and mismatch repair bias genome variation and composition

SA Lujan, AR Clausen, AB Clark… - Genome …, 2014 - genome.cshlp.org
Mutational heterogeneity must be taken into account when reconstructing evolutionary
histories, calibrating molecular clocks, and predicting links between genes and disease …

Multiplex padlock targeted sequencing reveals human hypermutable CpG variations

JB Li, Y Gao, J Aach, K Zhang, GV Kryukov… - Genome …, 2009 - genome.cshlp.org
Utilizing the full power of next-generation sequencing often requires the ability to perform
large-scale multiplex enrichment of many specific genomic loci in multiple samples. Several …

Nucleotide diversity analysis highlights functionally important genomic regions

TV Tatarinova, E Chekalin, Y Nikolsky, S Bruskin… - Scientific reports, 2016 - nature.com
We analyzed functionality and relative distribution of genetic variants across the complete
Oryza sativa genome, using the 40 million single nucleotide polymorphisms (SNPs) dataset …