(Q39670579)

13 September 2017

title

Parent-of-origin-specific signatures of de novo mutations (English)

1 reference

Author Correction: Parent-of-origin-specific signatures of de novo mutations

13 September 2017

corrigendum / erratum

1 reference

1 reference

13 September 2017

John E Niederhuber

0 references

Jakob M Goldmann

0 references

Michele Pinelli

0 references

Christian Gilissen

0 references

Joris A Veltman

0 references

Alexander Hoischen

1 reference

13 September 2017

Lisenka E L M Vissers

1 reference

13 September 2017

Wendy S W Wong

1 reference

13 September 2017

Terry Farrah

1 reference

13 September 2017

Dale Bodian

1 reference

13 September 2017

Anna B Stittrich

1 reference

13 September 2017

Jared C Roach

1 reference

13 September 2017

Joseph G Vockley

1 reference

13 September 2017

Benjamin D Solomon

1 reference

13 September 2017

John E Niederhuber

1 reference

13 September 2017

language of work or name

English

0 references

publication date

20 June 2016

1 reference

13 September 2017

1 reference

13 September 2017

1 reference

13 September 2017

1 reference

13 September 2017

page(s)

935-939

1 reference

De novo mutations in human genetic disease

13 September 2017

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Properties and rates of germline mutations in humans

21 January 2018

1 reference

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

21 January 2018

1 reference

The effects of chromatin organization on variation in mutation rates in the genome

21 January 2018

1 reference

The origins, patterns and implications of human spontaneous mutation

21 January 2018

1 reference

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

21 January 2018

1 reference

New observations on maternal age effect on germline de novo mutations

21 January 2018

1 reference

Elevated germline mutation rate in teenage fathers

21 January 2018

1 reference

Determinants of mutation rate variation in the human germline

21 January 2018

1 reference

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

21 January 2018

1 reference

Common fragile sites, extremely large genes, neural development and cancer

21 January 2018

1 reference

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

21 January 2018

1 reference

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

21 January 2018

1 reference

Signatures of mutational processes in human cancer

21 January 2018

1 reference

Timing, rates and spectra of human germline mutation

21 January 2018

1 reference

Impairment of BRCA1-related DNA double-strand break repair leads to ovarian aging in mice and humans

21 January 2018

1 reference

Clusters of Multiple Mutations: Incidence and Molecular Mechanisms

21 January 2018

1 reference

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

21 January 2018

1 reference

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing

21 January 2018

1 reference

Computational techniques for human genome resequencing using mated gapped reads

21 January 2018

1 reference

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

Genome sequencing identifies major causes of severe intellectual disability

21 January 2018

1 reference

Kaviar: an accessible system for testing SNV novelty

21 January 2018

1 reference

A user's guide to the encyclopedia of DNA elements (ENCODE)

21 January 2018

1 reference

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

21 January 2018

1 reference

Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells.

21 January 2018

1 reference

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

21 January 2018

1 reference

GEMINI: integrative exploration of genetic variation and genome annotations

21 January 2018

1 reference

Why do human diversity levels vary at a megabase scale?

21 January 2018

1 reference

BEDTools: a flexible suite of utilities for comparing genomic features

21 January 2018

1 reference

The UCSC Genome Browser database: 2015 update

21 January 2018

1 reference

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

21 January 2018

1 reference

Integrative analysis of 111 reference human epigenomes

21 January 2018

1 reference

An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers

21 January 2018

1 reference

AID expression in B-cell lymphomas causes accumulation of genomic uracil and a distinct AID mutational signature.

21 January 2018

1 reference

B cell super-enhancers and regulatory clusters recruit AID tumorigenic activity

21 January 2018

1 reference

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

21 January 2018

1 reference

depmixS4: AnRPackage for Hidden Markov Models

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.3597

1 reference

13 September 2017

1 reference