(Q34277089)

1 August 2017

Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome (English)

1 reference

1 August 2017

10

Chad Shaw

1 reference

1 August 2017

Anna Gambin

13

0 references

Tomasz Gambin

Tomasz Gambin

12

0 references

Margaret A Goodell

Margaret A Goodell

6

0 references

James R. Lupski

14

James R Lupski

1 reference

1 August 2017

R Alan Harris

2

1 reference

ORCID Public Data File 2021

Ankita Patel

8

Ankita Patel

1 reference

1 August 2017

Aleksandar Milosavljevic

15

Aleksandar Milosavljevic

1 reference

1 August 2017

11

A Craig Chinault

1 reference

1 August 2017

3

Sau Wai Cheung

1 reference

1 August 2017

Jian Li

1

1 reference

1 August 2017

Cristian Coarfa

4

1 reference

1 August 2017

Mira Jeong

5

1 reference

1 August 2017

Lisa D White

7

1 reference

1 August 2017

Sung-Hae Kang

9

1 reference

1 August 2017

17 May 2012

1 reference

1 August 2017

1 reference

1 August 2017

8

1 reference

1 August 2017

5

1 reference

1 August 2017

e1002692

1 reference

Creative Commons Attribution 4.0 International

1 August 2017

start time

17 May 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

MUMmer

MUMmer

1 reference

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

cites work

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Sperm methylation profiles reveal features of epigenetic inheritance and evolution in primates

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

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=3355074

Integrative DNA methylation and gene expression analyses identify DNA packaging and epigenetic regulatory genes associated with low motility sperm

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Estrogen receptor α-mediated transcription induces cell cycle-dependent DNA double-strand breaks

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

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=3355074

Pash 3.0: A versatile software package for read mapping and integrative analysis of genomic and epigenomic variation using massively parallel DNA 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=3355074

Genome-wide reprogramming in the mouse germ line entails the base excision repair pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Functional impact of global rare copy number variation in autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Genome-wide mapping and assembly of structural variant breakpoints in the mouse 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=3355074

Dynamic changes in the human methylome during differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Induced chromosomal proximity and gene fusions in prostate cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Human DNA methylomes at base resolution show widespread epigenomic differences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

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=3355074

Aging and environmental exposures alter tissue-specific DNA methylation dependent upon CpG island context

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Complex human chromosomal and genomic rearrangements

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Evolutionary breakpoints in the gibbon suggest association between cytosine methylation and karyotype evolution

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Genomic disorders ten years on.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

A census of human transcription factors: function, expression and evolution

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

A microhomology-mediated break-induced replication model for the origin of human 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=3355074

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Singleton deletions throughout the genome increase risk of bipolar disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer 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=3355074

Genomewide analysis of PRC1 and PRC2 occupancy identifies two classes of bivalent domains

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Integrated detection and population-genetic analysis of SNPs and 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=3355074

A chromatin-wide transition to H4K20 monomethylation impairs genome integrity and programmed DNA rearrangements in the mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Rare chromosomal deletions and duplications increase risk of 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=3355074

6 July 2018

Epigenetics in cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

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=3355074

Epigenetic decisions in mammalian germ cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Human-specific changes of genome structure detected by genomic triangulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Hyperconserved CpG domains underlie Polycomb-binding sites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Distribution, silencing potential and evolutionary impact of promoter DNA methylation 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=3355074

Chromatin modifications and their function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

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=3355074

Discovery of previously unidentified genomic disorders from the duplication architecture 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=3355074

GFINDer: genetic disease and phenotype location statistical analysis and mining of dynamically annotated gene lists

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

An epigenetic code for DNA damage repair pathways?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Serial segmental duplications during primate evolution result in complex human genome architecture

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Circular binary segmentation for the analysis of array-based DNA copy number 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=3355074

Meiotic catastrophe and retrotransposon reactivation in male germ cells lacking Dnmt3L

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

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=3355074

Pash: efficient genome-scale sequence anchoring by Positional Hashing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Hotspots of mammalian chromosomal evolution

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Versatile and open software for comparing large 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=3355074

THE NUMBER OF ALLELES THAT CAN BE MAINTAINED IN A FINITE 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=3355074

Induction of Tumors in Mice by Genomic Hypomethylation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Recent segmental duplications 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=3355074

BLAT—The BLAST-Like Alignment Tool

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Genome architecture, rearrangements and genomic disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Segmental duplications: organization and impact within the current human genome project assembly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase 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=3355074

Transcription of IAP endogenous retroviruses is constrained by cytosine methylation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

De novo methylation, expression, and infectivity of retroviral genomes introduced into embryonal carcinoma cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

The CpG dinucleotide and 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=3355074

HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination

6 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002692

Lineage-specific polycomb targets and de novo DNA methylation define restriction and potential of neuronal progenitors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002692

Transcriptional features of genomic regulatory blocks

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002692

Androgen-induced TOP2B-mediated double-strand breaks and prostate cancer gene rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002692

Evolution at 150: time for truly biological psychiatry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002692

Pash 2.0: scaleable sequence anchoring for next-generation sequencing technologies.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355074

Chromosomal Instability and Tumors Promoted by DNA Hypomethylation

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22615578

12 December 2020

inferred from PubMed ID database lookup

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22615578

12 December 2020

inferred from PubMed ID database lookup

[Mobile elements and evolution]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22615578

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1371/JOURNAL.PGEN.1002692

1 reference

release_p4mgryq7ozbtnbetjs2he32biu

1 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/p4mgryq7ozbtnbetjs2he32biu

24 November 2022

mapped directly with Wikidata item

PMCID

3355074

1 reference

1 August 2017

1 reference