Characteristics of de novo structural changes in the human genome (Q34472208)

2 August 2017

Characteristics of de novo structural changes in the human genome (English)

1 reference

2 August 2017

Cornelia M. van Duijn

23

Cornelia M van Duijn

0 references

Cisca Wijmenga

25

Cisca Wijmenga

0 references

Tobias Marschall

Tobias Marschall

4

0 references

Lennart C Karssen

Lennart C Karssen

13

0 references

Victor Guryev

Victor Guryev

33

0 references

Morris A Swertz

24

Morris A Swertz

1 reference

2 August 2017

28

Dorret I Boomsma

1 reference

2 August 2017

27

P Eline Slagboom

1 reference

2 August 2017

6

Abdel Abdellaoui

1 reference

2 August 2017

30

Evan E Eichler

1 reference

2 August 2017

15

Robert E Handsaker

1 reference

2 August 2017

Fereydoun Hormozdiari

3

Fereydoun Hormozdiari

1 reference

2 August 2017

14

Bradley P Coe

1 reference

2 August 2017

5

Jayne Y Hehir-Kwa

1 reference

2 August 2017

10

Ivo Renkens

1 reference

2 August 2017

Wigard P Kloosterman

1

1 reference

2 August 2017

Laurent C Francioli

2

1 reference

2 August 2017

Eric-Wubbo Lameijer

7

1 reference

2 August 2017

Matthijs H Moed

8

1 reference

2 August 2017

Vyacheslav Koval

9

1 reference

2 August 2017

Markus J van Roosmalen

11

1 reference

2 August 2017

Pascal Arp

12

1 reference

2 August 2017

Eka D Suchiman

16

1 reference

2 August 2017

Edwin Cuppen

17

1 reference

2 August 2017

Djie Tjwan Thung

18

1 reference

2 August 2017

Mitch McVey

19

1 reference

2 August 2017

Michael C Wendl

20

1 reference

2 August 2017

Genome of Netherlands Consortium

21

1 reference

2 August 2017

André Uitterlinden

22

1 reference

2 August 2017

GertJan B van Ommen

26

1 reference

2 August 2017

Alexander Schönhuth

29

1 reference

2 August 2017

Paul I W de Bakker

31

1 reference

2 August 2017

Kai Ye

32

1 reference

2 August 2017

16 April 2015

1 reference

2 August 2017

1 reference

2 August 2017

25

1 reference

2 August 2017

792-801

1 reference

2 August 2017

6

1 reference

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

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Mobster: accurate detection of mobile element insertions in next generation sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Genome sequencing identifies major causes of severe intellectual disability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Polymerase theta-mediated end joining of replication-associated DNA breaks in C. elegans.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

MATE-CLEVER: Mendelian-inheritance-aware discovery and genotyping of midsize and long indels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

DeNovoGear: de novo indel and point mutation discovery and phasing.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

The Genome of the Netherlands: design, and project goals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Properties and rates of germline mutations in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

SOAPdenovo2: an empirically improved memory-efficient short-read de novo assembler

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

De novo mutations in human genetic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Human transposon tectonics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

A comprehensive map of mobile element insertion polymorphisms in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

A copy number variation morbidity map of developmental delay

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Genome structural variation discovery and genotyping

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Mapping copy number variation by population-scale genome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Integrative genomics viewer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

A human genome structural variation sequencing resource reveals insights into mutational mechanisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

De novo rates and selection of large copy number variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

FACADE: a fast and sensitive algorithm for the segmentation and calling of high resolution array CGH data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Towards a comprehensive structural variation map of an individual human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Synthesis-dependent microhomology-mediated end joining accounts for multiple types of repair junctions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Rate, molecular spectrum, and consequences of human mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Structural variation in the human genome and its role in disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Origins and functional impact of copy number variation in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Mechanisms of change in gene copy number

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Mammalian non-LTR retrotransposons: for better or worse, in sickness and in health

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Paired-end mapping reveals extensive structural variation in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

The diploid genome sequence of an individual human

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Strong association of de novo copy number mutations with autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Relative impact of nucleotide and copy number variation on gene expression phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Global variation in copy number in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

A genome-wide comparison of recent chimpanzee and human segmental duplications

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Fine-scale structural variation of the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Detection of large-scale variation in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Large-scale copy number polymorphism in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Mechanisms of formation of structural variation in a fully sequenced human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Revising the human mutation rate: implications for understanding human evolution

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448676

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

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25883321

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25883321

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.185041.114

1 reference

2 August 2017

1 reference

2 August 2017

1 reference