Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort. (Q44083639)

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22 February 2020

title

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort (English)

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22 February 2020

1

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author name string

Julie Scuffins

2

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22 February 2020

Daniel Schmidt

3

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22 February 2020

Rachel Lewis

4

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22 February 2020

Daniel Pineda-Alvarez

5

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22 February 2020

Amanda Stafford

6

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22 February 2020

Lindsay Schmidt

7

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22 February 2020

Stephanie Warren

8

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22 February 2020

Federica Gibellini

9

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22 February 2020

Anastasia Kondakova

10

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22 February 2020

Amanda Blair

11

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22 February 2020

Sherri Bale

12

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22 February 2020

Ludmila Matyakhina

13

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22 February 2020

Jeanne Meck

14

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22 February 2020

Swaroop Aradhya

15

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22 February 2020

Eden Haverfield

16

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22 February 2020

language of work or name

English

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publication date

6 November 2014

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22 February 2020

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22 February 2020

volume

17

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22 February 2020

issue

8

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22 February 2020

page(s)

623-629

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https://scigraph.springernature.com/pub.10.1038/gim.2014.160

22 February 2020

exact match

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cites work

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

21 January 2018

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The clinical context of copy number variation in the human genome

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2014.160

Detection of clinically relevant exonic copy-number changes by array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.160

Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.160

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

21 January 2018

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Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

21 January 2018

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EXCAVATOR: detecting copy number variants from whole-exome sequencing data

21 January 2018

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Copy number variation detection and genotyping from exome sequence data

21 January 2018

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Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations

21 January 2018

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Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

21 January 2018

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Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

21 January 2018

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12 December 2020

The human genome browser at UCSC

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12 December 2020

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

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12 December 2020

Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma

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12 December 2020

GeneTests: an online genetic information resource for health care providers.

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12 December 2020

Identifiers

DOI

10.1038/GIM.2014.160

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25356966%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

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