Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Article Swipe
Andrew M. Gross
,
Subramanian S. Ajay
,
Vani Rajan
,
Carolyn M. Brown
,
Krista Bluske
,
Nicole Burns
,
Aditi Chawla
,
Alison J. Coffey
,
Alka Malhotra
,
Alicia Scocchia
,
Erin Thorpe
,
Natasa Dzidic
,
Karine Hovanes
,
Trilochan Sahoo
,
Egor Dolzhenko
,
Bryan R. Lajoie
,
Amirah Khouzam
,
Shimul Chowdhury
,
John W. Belmont
,
Eric Roller
,
Sergii Ivakhno
,
Stephen Tanner
,
Julia McEachern
,
Tina Hambuch
,
Michael A. Eberle
,
R. Tanner Hagelstrom
,
David Bentley
,
Denise Perry
,
Ryan J. Taft
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1038/s41436-018-0295-y
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1038/s41436-018-0295-y
Robust identification of CNVs by GS is possible within a clinical testing environment.
Related Topics
Concepts
Copy-number variation
Uniparental disomy
Breakpoint
Genetics
Copy number analysis
Exome sequencing
Computational biology
SNP array
Whole genome sequencing
Biology
Genome
Bioinformatics
Medicine
Chromosome
Single-nucleotide polymorphism
Phenotype
Gene
Karyotype
Genotype
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41436-018-0295-y
- http://www.gimjournal.org/article/S1098360021014714/pdf
- OA Status
- hybrid
- Cited By
- 122
- References
- 41
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2894924363
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2894924363Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1038/s41436-018-0295-yDigital Object Identifier
- Title
-
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed diseaseWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2018Year of publication
- Publication date
-
2018-10-03Full publication date if available
- Authors
-
Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, Carolyn M. Brown, Krista Bluske, Nicole Burns, Aditi Chawla, Alison J. Coffey, Alka Malhotra, Alicia Scocchia, Erin Thorpe, Natasa Dzidic, Karine Hovanes, Trilochan Sahoo, Egor Dolzhenko, Bryan R. Lajoie, Amirah Khouzam, Shimul Chowdhury, John W. Belmont, Eric Roller, Sergii Ivakhno, Stephen Tanner, Julia McEachern, Tina Hambuch, Michael A. Eberle, R. Tanner Hagelstrom, David Bentley, Denise Perry, Ryan J. TaftList of authors in order
- Landing page
-
https://doi.org/10.1038/s41436-018-0295-yPublisher landing page
- PDF URL
-
https://www.gimjournal.org/article/S1098360021014714/pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://www.gimjournal.org/article/S1098360021014714/pdfDirect OA link when available
- Concepts
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Copy-number variation, Uniparental disomy, Breakpoint, Genetics, Copy number analysis, Exome sequencing, Computational biology, SNP array, Whole genome sequencing, Biology, Genome, Bioinformatics, Medicine, Chromosome, Single-nucleotide polymorphism, Phenotype, Gene, Karyotype, GenotypeTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
122Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 7, 2024: 19, 2023: 17, 2022: 21, 2021: 30Per-year citation counts (last 5 years)
- References (count)
-
41Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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