Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach (Q30885441)

27 June 2017

title

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach (English)

1 reference

27 June 2017

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1 reference

11

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31 May 2020

Yoshinori Tsurusaki

13

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31 May 2020

Hirotomo Saitsu

15

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31 May 2020

author name string

Satoko Miyatake

1

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31 May 2020

Eriko Koshimizu

2

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31 May 2020

Atsushi Fujita

3

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31 May 2020

Ryoko Fukai

4

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31 May 2020

Eri Imagawa

5

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31 May 2020

Chihiro Ohba

6

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31 May 2020

Ichiro Kuki

7

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31 May 2020

Megumi Nukui

8

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31 May 2020

Atsushi Araki

9

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31 May 2020

Yoshio Makita

10

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31 May 2020

Mitsuko Nakashima

12

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31 May 2020

Noriko Miyake

14

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31 May 2020

Naomichi Matsumoto

16

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31 May 2020

publication date

22 January 2015

1 reference

Journal of Human Genetics

27 June 2017

published in

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31 May 2020

volume

60

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31 May 2020

issue

4

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31 May 2020

page(s)

175-182

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608832%20AND%20SRC:MED&resulttype=core&format=json

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

31 May 2020

cites work

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Large recurrent microdeletions associated with schizophrenia

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Copy-number variations associated with neuropsychiatric conditions

21 January 2018

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Genotype, haplotype and copy-number variation in worldwide human populations

21 January 2018

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Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

21 January 2018

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Large, rare chromosomal deletions associated with severe early-onset obesity

21 January 2018

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The landscape of somatic copy-number alteration across human cancers

21 January 2018

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Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

21 January 2018

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An evaluation of copy number variation detection tools from whole-exome sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.124

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

21 January 2018

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Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data

21 January 2018

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Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms

21 January 2018

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Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

21 January 2018

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

21 January 2018

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Exome sequence read depth methods for identifying copy number changes

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25608832

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/JHG.2014.124

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25608832%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference