Prevalence and properties of intragenic copy-number variation in Mendelian disease genes (Q89081834)

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31 March 2020

title

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes (English)

1 reference

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31 March 2020

Rebecca Truty

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31 March 2020

Joshua Paul

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31 March 2020

Michael Kennemer

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31 March 2020

Stephen E Lincoln

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31 March 2020

Eric Olivares

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31 March 2020

Robert L Nussbaum

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31 March 2020

Swaroop Aradhya

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31 March 2020

publication date

12 June 2018

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31 March 2020

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31 March 2020

volume

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31 March 2020

issue

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31 March 2020

page(s)

114-123

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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

31 March 2020

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Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

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Identification of novel candidate disease genes from de novo exonic copy number variants.

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

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Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

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7 January 2021

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7 January 2021

Identification of Medically Actionable Secondary Findings in the 1000 Genomes

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7 January 2021

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

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7 January 2021

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

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7 January 2021

The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group

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PubMed

https://pubmed.ncbi.nlm.nih.gov/29895855

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/S41436-018-0033-5

1 reference

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31 March 2020

1 reference

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31 March 2020

PubMed publication ID

29895855

1 reference

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