| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1091310319 |
| P356 | DOI | 10.1186/S13039-017-0333-5 |
| P2888 | exact match | https://scigraph.springernature.com/pub.10.1186/s13039-017-0333-5 |
| P932 | PMC publication ID | 5569469 |
| P698 | PubMed publication ID | 28852425 |
| P2093 | author name string | Jian Wang | |
| Cheng Zhang | |||
| Yiping Shen | |||
| Tingting Yu | |||
| Niu Li | |||
| Xiumin Wang | |||
| Xuyun Hu | |||
| Ruen Yao | |||
| P2860 | cites work | Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives | Q21284304 |
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| Targeted capture and massively parallel sequencing of 12 human exomes | Q24615381 | ||
| Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 | ||
| Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities | Q28296227 | ||
| CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing | Q28305453 | ||
| Copy number variation detection and genotyping from exome sequence data | Q30422583 | ||
| Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss. | Q30586706 | ||
| Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder | Q30671413 | ||
| Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data | Q30808425 | ||
| Identification of copy number variants from exome sequence data | Q30841251 | ||
| Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach | Q30885441 | ||
| Personalized copy number and segmental duplication maps using next-generation sequencing. | Q33498358 | ||
| The promise of whole-exome sequencing in medical genetics | Q34382912 | ||
| Comparative studies of copy number variation detection methods for next-generation sequencing technologies | Q34634689 | ||
| An evaluation of copy number variation detection tools from whole-exome sequencing data | Q35112178 | ||
| Detection of clinically relevant exonic copy-number changes by array CGH. | Q35172112 | ||
| Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants | Q35567101 | ||
| Comparison of sequencing based CNV discovery methods using monozygotic twin quartets | Q35587793 | ||
| Copy number variants, aneuploidies, and human disease | Q35694174 | ||
| Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth | Q36358463 | ||
| Structural variation of the human genome | Q36509260 | ||
| Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities | Q37044378 | ||
| Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with Tetralogy of Fallot | Q37439388 | ||
| Exome sequence read depth methods for identifying copy number changes | Q38244501 | ||
| Exome sequencing and whole genome sequencing for the detection of copy number variation | Q38531649 | ||
| Comparative study of exome copy number variation estimation tools using array comparative genomic hybridization as control | Q42875652 | ||
| Clinical relevance of small copy-number variants in chromosomal microarray clinical testing. | Q48352847 | ||
| Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes | Q88223992 | ||
| P304 | page(s) | 30 | |
| P577 | publication date | 2017-08-23 | |
| P1433 | published in | Molecular Cytogenetics | Q15761790 |
| P1476 | title | Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data | |
| P478 | volume | 10 |
| Q89450343 | A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data |
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| Q92340985 | A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency |
| Q96640503 | CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels |
| Q98945958 | CRISPR-Cas9 enrichment and long read sequencing for fine mapping in plants |
| Q90076304 | Comparative study of whole exome sequencing-based copy number variation detection tools |
| Q64286985 | Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance |
| Q64044350 | Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report |
| Q88584638 | Copy Number Variation Disorders |
| Q101141395 | Efficient detection of copy-number variations using exome data: batch- and sex-based analyses |
| Q100761955 | High plasma salivary α-amylase, but not high AMY1 copy number, associated with low obesity rate in Qatari adults: cross-sectional study |
| Q92180784 | Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series |
| Q55042995 | Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities. |
| Q59808730 | Perspectives on the Genomics of HSP Beyond Mendelian Inheritance |
| Q89510919 | Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2 |
| Q90592470 | Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics |
| Q90176997 | SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes |
| Q49396578 | Somatic evolutionary timings of driver mutations. |
| Q99552143 | The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients |
| Q112777615 | The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research |
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