ArticlePLoS computational biology2020
CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer.
Article in PLoS computational biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 25 citations in OpenAlex.
- GermlineCurrent oncology (Toronto, Ont.) · 2025Article
- Frameshift and Copy Number Variants inNeurology. Genetics · 2025Article
- Copy Number Variations and Gene Mutations Identified by Multiplex Ligation-Dependent Probe Amplification in Romanian Chronic Lymphocytic Leukemia Patients.Journal of personalized medicine · 2023Article
- The First Large Deletion ofBiomedicines · 2023Article
- Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia.Diagnostics (Basel, Switzerland) · 2023Review
- varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.Bioinformatics (Oxford, England) · 2023Article
- Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.Frontiers in oncology · 2023Article
- Prevalence of pathogenic germline variants in the circulating tumor DNA testing.International journal of clinical oncology · 2022Article
- Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible.Biomedicines · 2022Article
- Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.Journal of human genetics · 2022Article
- Ensemble of nucleic acid absolute quantitation modules for copy number variation detection and RNA profiling.Nature communications · 2022Article
- From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.Journal of personalized medicine · 2022Article
- Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.Translational neurodegeneration · 2021Article
- Article
- Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.Clinical genetics · 2021Article
- New structural variations responsible for Charcot-Marie-Tooth disease: The first two largeComputational and structural biotechnology journal · 2021Article
- Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.Frontiers in endocrinology · 2021Article
- One Multilocus Genomic Variation Is Responsible for a Severe Charcot-Marie-Tooth Axonal Form.Brain sciences · 2020Article
- A mutation can hide another one: Think Structural Variants!Computational and structural biotechnology journal · 2020Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Molecular diagnosis is an essential step of patient care. An increasing number of Copy Number Variations (CNVs) have been identified that are involved in inherited and somatic diseases. However, there are few existing tools to identify them among amplicon sequencing data generated by Next Generation Sequencing (NGS). We present here a new tool, CovCopCan, that allows the rapid and easy detection of CNVs in inherited diseases, as well as somatic data of patients with cancer, even with a low ratio of cancer cells to healthy cells. This tool could be very useful for molecular geneticists to rapidly identify CNVs in an interactive and user-friendly way.
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