4.8 Article

Germline de novo mutation rates on exons versus introns in humans

Related references

Note: Only part of the references are listed.
Article Multidisciplinary Sciences

The repertoire of mutational signatures in human cancer

Ludmil B. Alexandrov et al.

NATURE (2020)

Article Multidisciplinary Sciences

Characterizing mutagenic effects of recombination through a sequence-level genetic map

Bjarni V. Halldorsson et al.

SCIENCE (2019)

Article Multidisciplinary Sciences

Overlooked roles of DNA damage and maternal age in generating human germline mutations

Ziyue Gao et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)

Article Multidisciplinary Sciences

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

Jedidiah Carlson et al.

NATURE COMMUNICATIONS (2018)

Article Genetics & Heredity

Reduced mutation rate in exons due to differential mismatch repair

Joan Frigola et al.

NATURE GENETICS (2017)

Article Multidisciplinary Sciences

Differences between germline and somatic mutation rates in humans and mice

Brandon Milholland et al.

NATURE COMMUNICATIONS (2017)

Article Genetics & Heredity

Fetal de novo mutations and preterm birth

Jingjing Li et al.

PLOS GENETICS (2017)

Article Biochemistry & Molecular Biology

Universal Patterns of Selection in Cancer and Somatic Tissues

Inigo Martincorena et al.

Article Genetics & Heredity

Timing, rates and spectra of human germline mutation

Raheleh Rahbari et al.

NATURE GENETICS (2016)

Article Genetics & Heredity

Parent-of-origin-specific signatures of de novo mutations

Jakob M. Goldmann et al.

NATURE GENETICS (2016)

Article Biotechnology & Applied Microbiology

The Ensembl Variant Effect Predictor

William McLaren et al.

GENOME BIOLOGY (2016)

Article Multidisciplinary Sciences

Integrative analysis of 111 reference human epigenomes

Anshul Kundaje et al.

NATURE (2015)

Article Genetics & Heredity

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

Laurent C. Francioli et al.

NATURE GENETICS (2015)

Article Multidisciplinary Sciences

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov et al.

NATURE (2014)

Article Multidisciplinary Sciences

Mutational heterogeneity in cancer and the search for new cancer-associated genes

Michael S. Lawrence et al.

NATURE (2013)

Article Multidisciplinary Sciences

Signatures of mutational processes in human cancer

Ludmil B. Alexandrov et al.

NATURE (2013)

Article Biochemistry & Molecular Biology

Mutational Processes Molding the Genomes of 21 Breast Cancers

Serena Nik-Zainal et al.

Article Biochemistry & Molecular Biology

GENCODE: The reference human genome annotation for The ENCODE Project

Jennifer Harrow et al.

GENOME RESEARCH (2012)

Article Multidisciplinary Sciences

Chromatin organization is a major influence on regional mutation rates in human cancer cells

Benjamin Schuster-Boeckler et al.

NATURE (2012)

Article Multidisciplinary Sciences

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Benjamin M. Neale et al.

NATURE (2012)

Article Multidisciplinary Sciences

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Stephan J. Sanders et al.

NATURE (2012)

Article Multidisciplinary Sciences

An integrated encyclopedia of DNA elements in the human genome

Ian Dunham et al.

NATURE (2012)

Article Multidisciplinary Sciences

Fast Computation and Applications of Genome Mappability

Thomas Derrien et al.

PLOS ONE (2012)

Article Multidisciplinary Sciences

SNPs Occur in Regions with Less Genomic Sequence Conservation

John C. Castle

PLOS ONE (2011)

Article Multidisciplinary Sciences

Rate, molecular spectrum, and consequences of human mutation

Michael Lynch

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Article Multidisciplinary Sciences

Regulation of Alternative Splicing by Histone Modifications

Reini F. Luco et al.

SCIENCE (2010)

Article Genetics & Heredity

Human mutation rate associated with DNA replication timing

John A. Stamatoyannopoulos et al.

NATURE GENETICS (2009)

Article Biochemistry & Molecular Biology

Nucleosome positioning as a determinant of exon recognition

Hagen Tilgner et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2009)

Review Genetics & Heredity

Hearing silence: non-neutral evolution at synonymous sites in mammals

JV Chamary et al.

NATURE REVIEWS GENETICS (2006)

Review Multidisciplinary Sciences

Initial sequence of the chimpanzee genome and comparison with the human genome

TS Mikkelsen et al.

NATURE (2005)

Review Genetics & Heredity

The origins patterns and implications of human spontaneous mutation

JF Crow

NATURE REVIEWS GENETICS (2000)