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Hypermutation in human cancer genomes: footprints and mechanisms
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 …
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 …
diseases, characterizing their properties and the rate at which they arise across individuals …
A method and server for predicting damaging missense mutations
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 …
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
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 …
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 …
Variation occurs non-randomly across the genome, and mechanisms for this remain to be …
Understanding type 1 diabetes through genetics: advances and prospects
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) …
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
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 …
variation, disentangling the contributions of each has remained as a major challenge in …
Heterogeneous polymerase fidelity and mismatch repair bias genome variation and composition
Mutational heterogeneity must be taken into account when reconstructing evolutionary
histories, calibrating molecular clocks, and predicting links between genes and disease …
histories, calibrating molecular clocks, and predicting links between genes and disease …
Multiplex padlock targeted sequencing reveals human hypermutable CpG variations
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 …
large-scale multiplex enrichment of many specific genomic loci in multiple samples. Several …
Nucleotide diversity analysis highlights functionally important genomic regions
We analyzed functionality and relative distribution of genetic variants across the complete
Oryza sativa genome, using the 40 million single nucleotide polymorphisms (SNPs) dataset …
Oryza sativa genome, using the 40 million single nucleotide polymorphisms (SNPs) dataset …