(Q36192609)

12 August 2017

Multi-nucleotide de novo Mutations in Humans (English)

1 reference

12 August 2017

Unnur Þorsteinsdóttir

9

Unnur Thorsteinsdottir

0 references

Aslaug Jonasdottir

6

Aslaug Jonasdottir

0 references

Adalbjorg Jonasdottir

7

Adalbjorg Jonasdottir

0 references

Søren Besenbacher

Søren Besenbacher

1

0 references

Augustine Kong

Augustine Kong

11

0 references

Patrick Sulem

2

Patrick Sulem

1 reference

12 August 2017

Daníel F. Guðbjartsson

12

Daniel F Gudbjartsson

1 reference

12 August 2017

13

Kari Stefansson

1 reference

12 August 2017

Agnar Helgason

3

1 reference

12 August 2017

Hannes Helgason

4

1 reference

12 August 2017

Helgi Kristjansson

5

1 reference

12 August 2017

Olafur Th Magnusson

8

1 reference

12 August 2017

Gisli Masson

10

1 reference

12 August 2017

15 November 2016

1 reference

12 August 2017

1 reference

12 August 2017

12

1 reference

12 August 2017

11

1 reference

12 August 2017

e1006315

1 reference

Creative Commons Attribution 4.0 International

12 August 2017

start time

15 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

New observations on maternal age effect on germline de novo mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Polymerase ζ Activity Is Linked to Replication Timing in Humans: Evidence from Mutational Signatures.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

AID/APOBEC deaminases and cancer

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Characteristics of de novo structural changes in the human genome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Large-scale whole-genome sequencing of the Icelandic population

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Error-prone polymerase activity causes multinucleotide mutations in humans

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Determinants of mutation rate variation in the human germline

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Estimating the human mutation rate using autozygosity in a founder population

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

DNA polymerase zeta generates clustered mutations during bypass of endogenous DNA lesions in Saccharomyces cerevisiae.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

An integrated encyclopedia of DNA elements in the human genome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

A direct characterization of human mutation based on microsatellites

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Pervasive multinucleotide mutational events in eukaryotes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Genetic history of an archaic hominin group from Denisova Cave in Siberia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

A Draft Sequence of the Neandertal Genome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Genome destabilization by homologous recombination in the germ line

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Sequencing newly replicated DNA reveals widespread plasticity in human replication timing

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Human triallelic sites: evidence for a new mutational mechanism?

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Detection of sharing by descent, long-range phasing and haplotype imputation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

The influence of recombination on human genetic diversity

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

The fidelity of DNA synthesis by yeast DNA polymerase zeta alone and with accessory proteins.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

DNA recombination. Recombination initiation maps of individual human genomes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Human mutation rate associated with DNA replication timing

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Common and low-frequency variants associated with genome-wide recombination rate

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Revising the human mutation rate: implications for understanding human evolution

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Direct and indirect consequences of meiotic recombination: implications for genome evolution.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Even small SNP clusters are non-randomly distributed: is this evidence of mutational non-independence?

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Why do human diversity levels vary at a megabase scale?

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5147774

Evidence for a High Frequency of Simultaneous Double-Nucleotide Substitutions

22 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006315

A New and More Accurate Estimate of the Rate of Concurrent Tandem-Base Substitution Mutations in the Human Germline: ∼0.4% of the Single-Nucleotide Substitution Mutation Rate

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006315

10.1371/JOURNAL.PGEN.1006315

21 January 2018

Identifiers

DOI

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

27846220

1 reference