The origins, determinants, and consequences of human mutations (Q38592660)

4 September 2017

The origins, determinants, and consequences of human mutations (English)

1 reference

4 September 2017

1

Jay Shendure

1 reference

4 September 2017

2

Joshua M Akey

1 reference

PubMed ID

26404824

4 September 2017

language of work or name

English

0 references

publication date

24 September 2015

1 reference

4 September 2017

1 reference

4 September 2017

349

1 reference

4 September 2017

1478-1483

1 reference

4 September 2017

6255

1 reference

Estimating the human mutation rate using autozygosity in a founder population

4 September 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Rate of de novo mutations and the importance of father's age to disease risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Selection and adaptation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Rate, molecular spectrum, and consequences of human mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Next-generation DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Determinants of mutation rate variation in the human germline

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Variation in genome-wide mutation rates within and between human families

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Human mutation rate associated with DNA replication timing

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

De novo mutations in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

The allelic architecture of human disease genes: common disease-common variant... or not?

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

The rate of spontaneous mutation of a human gene. 1935.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

The impact of recombination on nucleotide substitutions in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Genome sequence of a 45,000-year-old modern human from western Siberia

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Revising the human mutation rate: implications for understanding human evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Genetics and genomics of psychiatric disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Genetic heterogeneity in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Characteristics of de novo structural changes in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Genomic rearrangements and sporadic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Variation in the mutation rate across mammalian genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Transcription-associated mutational asymmetry in mammalian evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

The origins, patterns and implications of human spontaneous mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Signatures of mutational processes in human cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Somatic mutation in cancer and normal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Somatic gene mutation and human disease other than cancer: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

In vivo reversion to normal of inherited mutations in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Somatic mutation, genomic variation, and neurological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

The distribution of fitness effects of new mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Mutational effects and the evolution of new protein functions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

A general framework for estimating the relative pathogenicity of human genetic variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Approximation to the distribution of fitness effects across functional categories in human segregating polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Comment on "Evidence of abundant purifying selection in humans for recently acquired regulatory functions".

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Deep mutational scanning: a new style of protein science

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

The amino-acid mutational spectrum of human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Genetic variation in human DNA replication timing

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Somatic and germline genetics at the JAK2 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Cryptic variation in the human mutation rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Genome sequencing of normal cells reveals developmental lineages and mutational processes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

DNA damage and repair: from molecular mechanisms to health implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Evidence for recent, population-specific evolution of the human mutation rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

What genetics tells us about the causes and mechanisms of Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA9119

Resolving the complexity of the human genome using single-molecule sequencing

21 January 2018

1 reference

COCI

https://opencitations.net/index/coci/api/v1/citations/10.1038/NATURE13907

15 July 2023

Identifiers

DOI

10.1126/SCIENCE.AAA9119

1 reference

4 September 2017

0 references

1 reference

PubMed ID

26404824