Genome-wide patterns and properties of de novo mutations in humans (Q35798123)

10 August 2017

title

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

1 reference

10 August 2017

author

Cornelia M. van Duijn

8

Cornelia M van Duijn

0 references

Cisca Wijmenga

10

Cisca Wijmenga

0 references

Sung Chun

Sung Chun

5

0 references

Peter F Arndt

Peter F Arndt

16

0 references

Victor Guryev

Victor Guryev

15

0 references

Laurent C Francioli

Laurent C Francioli

1

0 references

Morris A Swertz

9

Morris Swertz

1 reference

10 August 2017

13

Dorret I Boomsma

1 reference

10 August 2017

12

P Eline Slagboom

1 reference

10 August 2017

Paz P Polak

2

1 reference

10 August 2017

Amnon Koren

3

1 reference

10 August 2017

Androniki Menelaou

4

1 reference

10 August 2017

Ivo Renkens

6

1 reference

10 August 2017

Genome of the Netherlands Consortium

7

1 reference

10 August 2017

Gertjan van Ommen

11

1 reference

10 August 2017

Kai Ye

14

1 reference

10 August 2017

Wigard P Kloosterman

17

1 reference

10 August 2017

Paul I W de Bakker

18

1 reference

10 August 2017

Shamil R Sunyaev

19

1 reference

10 August 2017

language of work or name

English

0 references

publication date

18 May 2015

1 reference

10 August 2017

1 reference

10 August 2017

volume

47

1 reference

10 August 2017

issue

7

1 reference

10 August 2017

page(s)

822-826

1 reference

DNA replication timing: Coordinating genome stability with genome regulation on the X chromosome and beyond

10 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Age-associated sperm DNA methylation alterations: possible implications in offspring disease susceptibility

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Whole-genome sequence variation, population structure and demographic history of the Dutch population

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Transcriptome and genome sequencing uncovers functional variation in humans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

The influence of genomic context on mutation patterns in the human genome inferred from rare variants.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

The choice of nucleotide inserted opposite abasic sites formed within chromosomal DNA reveals the polymerase activities participating in translesion DNA synthesis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Differential relationship of DNA replication timing to different forms of human mutation and variation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Estimating the human mutation rate using autozygosity in a founder population

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

An integrated encyclopedia of DNA elements in the human genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

De novo mutations in human genetic disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Mutational processes molding the genomes of 21 breast cancers

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Clustered mutations in yeast and in human cancers can arise from damaged long single-strand DNA regions.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Variation in the mutation rate across mammalian genomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

The variant call format and VCFtools

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

A framework for variation discovery and genotyping using next-generation DNA sequencing data

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Evolutionarily conserved replication timing profiles predict long-range chromatin interactions and distinguish closely related cell types

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Rate, molecular spectrum, and consequences of human mutation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Fast and accurate long-read alignment with Burrows-Wheeler transform

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

A small-cell lung cancer genome with complex signatures of tobacco exposure

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Widespread genomic signatures of natural selection in hominid evolution

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Hypermutable non-synonymous sites are under stronger negative selection

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

The impact of recombination on nucleotide substitutions in the human genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Analysis of sequence conservation at nucleotide resolution

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Distribution and intensity of constraint in mammalian genomic sequence

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Aligning multiple genomic sequences with the threaded blockset aligner

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Neutral Substitutions Occur at a Faster Rate in Exons Than in Noncoding DNA in Primate Genomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Human SNP variability and mutation rate are higher in regions of high recombination

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

A high-resolution recombination map of the human genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

The human genome browser at UCSC

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Resolution of the early placental mammal radiation using Bayesian phylogenetics

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

A Hidden Markov Model approach to variation among sites in rate of evolution

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Levels of naturally occurring DNA polymorphism correlate with recombination rates in D. melanogaster

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Population genetics of polymorphism and divergence

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Fine-scale recombination rate differences between sexes, populations and individuals

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Substantial regional variation in substitution rates in the human genome: importance of GC content, gene density, and telomere-specific effects.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Distinct changes of genomic biases in nucleotide substitution at the time of Mammalian radiation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

A Neutral Explanation for the Correlation of Diversity with Recombination Rates in Humans

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4485564

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25985141

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3292

1 reference

10 August 2017

1 reference

10 August 2017

1 reference