(Q36297533)

13 August 2017

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome (English)

1 reference

13 August 2017

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Joseph Glessner

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Giorgia Mandrile

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Daniela Giachino

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Joon Yong An

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Catarina M Seabra

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Stephan J. Sanders

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Michael E. Talkowski

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

5

Caroline Antolik

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

author name string

Harrison Brand

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Claire E Redin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Carrie Hanscom

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Matthew R Stone

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Tamara Mason

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Giulia Pregno

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Naghmeh Dorrani

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Danielle Perrin

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Cole Walsh

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Michelle Cipicchio

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Maura Costello

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Alexei Stortchevoi

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Benjamin B Currall

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Ashok Ragavendran

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Lauren Margolin

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Julian A Martinez-Agosto

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Diane Lucente

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Brynn Levy

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Ronald J Wapner

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Fabiola Quintero-Rivera

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Wigard Kloosterman

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

publication date

6 March 2017

1 reference

13 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

page(s)

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/s13059-017-1158-6

14 June 2020

exact match

0 references

cites work

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

1 reference

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Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region

30 September 2017

1 reference

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A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

30 September 2017

1 reference

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Analysis of protein-coding genetic variation in 60,706 humans

30 September 2017

1 reference

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Characterizing polymorphic inversions in human genomes by single-cell sequencing.

30 September 2017

1 reference

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Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels.

30 September 2017

1 reference

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Whole-Genome Sequencing Reveals Diverse Models of Structural Variations in Esophageal Squamous Cell Carcinoma

30 September 2017

1 reference

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Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

30 September 2017

1 reference

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Schizophrenia risk from complex variation of complement component 4

30 September 2017

1 reference

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Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

30 September 2017

1 reference

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Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.

30 September 2017

1 reference

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An integrated map of structural variation in 2,504 human genomes

30 September 2017

1 reference

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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

30 September 2017

1 reference

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Detection of Genomic Structural Variants from Next-Generation Sequencing Data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Assembly and diploid architecture of an individual human genome via single-molecule technologies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Chromothripsis from DNA damage in micronuclei.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Genomic instability in the PARK2 locus is associated with Parkinson's disease

30 September 2017

1 reference

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Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring

30 September 2017

1 reference

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Sambamba: fast processing of NGS alignment formats.

30 September 2017

1 reference

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Large multiallelic copy number variations in humans

30 September 2017

1 reference

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Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review.

30 September 2017

1 reference

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The UCSC Genome Browser database: 2015 update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Resolving the complexity of the human genome using single-molecule sequencing

30 September 2017

1 reference

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30 September 2017

1 reference

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

30 September 2017

1 reference

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Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

30 September 2017

1 reference

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Refining analyses of copy number variation identifies specific genes associated with developmental delay

30 September 2017

1 reference

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BEDTools: The Swiss-Army Tool for Genome Feature Analysis.

30 September 2017

1 reference

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A framework for the interpretation of de novo mutation in human disease

30 September 2017

1 reference

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Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing.

30 September 2017

1 reference

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

30 September 2017

1 reference

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LUMPY: a probabilistic framework for structural variant discovery.

30 September 2017

1 reference

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Genome sequencing identifies major causes of severe intellectual disability

30 September 2017

1 reference

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SAMBLASTER: fast duplicate marking and structural variant read extraction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Design of large-insert jumping libraries for structural variant detection using Illumina sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Sequencing depth and coverage: key considerations in genomic analyses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

InvFEST, a database integrating information of polymorphic inversions in the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

ClinVar: public archive of relationships among sequence variation and human phenotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Genic intolerance to functional variation and the interpretation of personal genomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Punctuated evolution of prostate cancer genomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Criteria for inference of chromothripsis in cancer genomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Chromothripsis in congenital disorders and cancer: similarities and differences

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Clinical diagnosis by whole-genome sequencing of a prenatal sample

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Chromosomal microarray versus karyotyping for prenatal diagnosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

An informatics approach to analyzing the incidentalome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

GENCODE: the reference human genome annotation for The ENCODE Project

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

The accessible chromatin landscape of the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

An integrated encyclopedia of DNA elements in the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Shattered and stitched chromosomes-chromothripsis and chromoanasynthesis-manifestations of a new chromosome crisis?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Topological domains in mammalian genomes identified by analysis of chromatin interactions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

A systematic survey of loss-of-function variants in human protein-coding genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Rare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese population

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

DNA breaks and chromosome pulverization from errors in mitosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Chromosome segregation errors as a cause of DNA damage and structural chromosome aberrations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Effects of inversions on within- and between-species recombination and divergence

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

BamTools: a C++ API and toolkit for analyzing and managing BAM files

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Genome structural variation discovery and genotyping

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Mapping copy number variation by population-scale genome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

A fast, lock-free approach for efficient parallel counting of occurrences of k-mers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

The Simons Simplex Collection: a resource for identification of autism genetic risk factors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Circos: an information aesthetic for comparative genomics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

The Sequence Alignment/Map format and SAMtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Using RepeatMasker to identify repetitive elements in genomic sequences

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Natural selection on genes that underlie human disease susceptibility

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Structural variation of chromosomes in autism spectrum disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Challenges and standards in integrating surveys of structural variation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Structural variation in the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

BLAT—The BLAST-Like Alignment Tool

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Segmental duplications: an 'expanding' role in genomic instability and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Primer3 on the WWW for general users and for biologist programmers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Genomic mapping by fingerprinting random clones: a mathematical analysis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Diverse mechanisms of somatic structural variations in human cancer genomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

A germline chromothripsis event stably segregating in 11 individuals through three generations.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5338099

Chromothripsis: how does such a catastrophic event impact human reproduction?

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28260531

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/28260531

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28260531

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13059-017-1158-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

14 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28260531%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

PubMed publication ID

28260531

1 reference