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BMC Bioinformatics, ISSN 1471-2105, 03/2017, Volume 18, Issue 1, pp. 147 - 147
Background: Targeted next-generation sequencing (NGS) has been widely used as a cost-effective way to identify the genetic basis of human disorders. Copy... 
Copy number variation | Next-generation sequencing | Maximum penalized likelihood estimation | SUSCEPTIBILITY | BIOCHEMICAL RESEARCH METHODS | HIDDEN MARKOV MODEL | HUMAN GENOME | GENE | MOLECULAR DIAGNOSIS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | HIGH-RESOLUTION | DISEASE | MATHEMATICAL & COMPUTATIONAL BIOLOGY | SEGMENTAL DUPLICATIONS | STRUCTURAL VARIATION | RETINITIS-PIGMENTOSA | Likelihood Functions | Humans | Sensitivity and Specificity | Software | Genome, Human | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | DNA Copy Number Variations | Cytogenetics | Usage | Research | Nucleotide sequencing | Copy number variations | DNA sequencing | Markov process | Fidelity | Intelligence | Segmentation | Identification methods | Copy number | Genes | Burrows | Lung | Lung cancer | Genomes | Decomposition | Hybridization | Population genetics | Bacterial artificial chromosomes | Dissolved organic carbon | Epidermal growth factor | Genetics | Mathematical models | Bioinformatics | Deoxyribonucleic acid--DNA | Breakpoints | Statistical analysis | Nucleotide sequence | Introns | Principal components analysis | Nucleic acids | Computer programs | Sensitivity | Algorithms | DNA microarrays | Mutation | Gene mapping | Artificial intelligence | Bayesian analysis | Methods | Cancer | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2015, Volume 97, Issue 5, pp. 691 - 707
Journal Article
MethodsX, ISSN 2215-0161, 2016, Volume 3, pp. 8 - 18
Pathological copy number variants (CNVs) and point mutations are major genetic causes of hundreds of disorders. Comparative genomic hybridization (CGH) also... 
Comparative genomic hybridization | Chromosomal microarray analysis | Copy number variants | Method name A high throughput approach chromosomal microarray analysis or comparative genomic hybridization method
Journal Article
Cell, ISSN 0092-8674, 04/2014, Volume 157, Issue 3, pp. 636 - 650
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 197 - 210
Journal Article
Cell, ISSN 0092-8674, 02/2017, Volume 168, Issue 5, pp. 830 - 842.e7
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 4/2015, Volume 17, Issue 4, pp. 262 - 270
Journal Article
BMC Proceedings, ISSN 1753-6561, 10/2012, Volume 6, Issue S6, pp. P25 - P25
  Doc number: P25 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 405 - 405
Journal Article
Investigative Opthalmology & Visual Science, ISSN 1552-5783, 06/2015, Volume 56, Issue 6, p. 3889
Journal Article
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