Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation (Q35669713)

26094575

9 August 2017

title

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

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9 August 2017

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language of work or name

English

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publication date

18 June 2015

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26094575

American Journal of Human Genetics

9 August 2017

published in

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volume

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issue

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page(s)

170-176

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Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints

13 June 2020

cites work

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Synaptic, transcriptional and chromatin genes disrupted in autism

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Global increases in both common and rare copy number load associated with autism

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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

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

12 July 2018

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

12 July 2018

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

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

12 July 2018

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

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Mapping copy number variation by population-scale genome sequencing

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The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

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

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

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

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

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

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12 July 2018

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

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Strong association of de novo copy number mutations with autism

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Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins

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10.1016/J.AJHG.2015.05.012

25 September 2018

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