(Q42321498)

26 October 2017

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs (English)

1 reference

26 October 2017

Benjamin P. Blackburne

1 reference

26 October 2017

1 reference

26 October 2017

Christine Bird

0 references

Lira Mamanova

1 reference

26 October 2017

Donald F Conrad

1 reference

26 October 2017

Charles Lee

1 reference

26 October 2017

Daniel J Turner

1 reference

26 October 2017

Matthew E Hurles

1 reference

26 October 2017

language of work or name

English

0 references

publication date

4 April 2010

1 reference

26 October 2017

1 reference

26 October 2017

1 reference

26 October 2017

1 reference

26 October 2017

385-391

1 reference

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Mechanisms of change in gene copy number

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

A microhomology-mediated break-induced replication model for the origin of human copy number variation

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Emerging themes and new challenges in defining the role of structural variation in human disease

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Alternative-NHEJ is a mechanistically distinct pathway of mammalian chromosome break repair

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Mapping and sequencing of structural variation from eight human genomes

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Sparse representation and Bayesian detection of genome copy number alterations from microarray data

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

The mechanism of human nonhomologous DNA end joining

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Direct selection of human genomic loci by microarray hybridization

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

The diploid genome sequence of an individual human

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Global variation in copy number in the human genome

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

An initial map of insertion and deletion (INDEL) variation in the human genome.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

DNA double-strand break repair: all's well that ends well

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Fine-scale structural variation of the human genome

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Mechanisms of DNA double strand break repair and chromosome aberration formation

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Molecular mechanisms for genomic disorders

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Minisatellite instability and germline mutation

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

A selective difference between human Y-chromosomal DNA haplotypes

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Tandem repeats finder: a program to analyze DNA sequences

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

A common sequence motif associated with recombination hot spots and genome instability in humans

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Single-nucleotide mutation rate increases close to insertions/deletions in eukaryotes.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Microarray-based genomic selection for high-throughput resequencing.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428939

Testing and dating of structural changes in practice

17 August 2018

1 reference

Transcript mapping with high-density oligonucleotide tiling arrays

21 January 2018

1 reference

SSAHA: a fast search method for large DNA databases

21 January 2018

1 reference

The complete genome of an individual by massively parallel DNA sequencing

21 January 2018

1 reference

Characterization of a panel of highly variable minisatellites cloned from human DNA

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20364136

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Computation and analysis of multiple structural change models

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

BLAT—The BLAST-Like Alignment Tool

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.564

1 reference

Dimensions Publication ID

26 October 2017

0 references

1 reference

26 October 2017

PubMed publication ID

20364136

1 reference