(Q39670579)

13 September 2017

title

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

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

13 September 2017

corrigendum / erratum

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7

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13 September 2017

15

John E Niederhuber

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Jakob M Goldmann

Jakob M Goldmann

1

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Michele Pinelli

Michele Pinelli

3

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Christian Gilissen

Christian Gilissen

14

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Joris A Veltman

Joris A Veltman

12

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Alexander Hoischen

9

Alexander Hoischen

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13 September 2017

8

Lisenka E L M Vissers

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13 September 2017

Wendy S W Wong

2

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13 September 2017

Terry Farrah

4

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13 September 2017

Dale Bodian

5

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13 September 2017

Anna B Stittrich

6

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13 September 2017

Jared C Roach

10

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13 September 2017

Joseph G Vockley

11

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13 September 2017

Benjamin D Solomon

13

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13 September 2017

John E Niederhuber

15

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13 September 2017

language of work or name

English

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publication date

20 June 2016

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13 September 2017

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13 September 2017

volume

48

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13 September 2017

issue

8

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13 September 2017

page(s)

935-939

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De novo mutations in human genetic disease

13 September 2017

cites work

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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

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

21 January 2018

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

21 January 2018

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The origins, patterns and implications of human spontaneous mutation

21 January 2018

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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

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Genome sequencing identifies major causes of severe intellectual disability

21 January 2018

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Kaviar: an accessible system for testing SNV novelty

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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Integrative analysis of 111 reference human epigenomes

21 January 2018

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An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.3597

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13 September 2017

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