ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
SG-ADVISER CNV: copy-number variant annotation and interpretation.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia.Molecular psychiatry · 2017Pooled it
- Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation.Global medical genetics · 2026Article
- Systematic assessment of structural variant annotation tools for genomic interpretation.Life science alliance · 2025Article
- Genome engineering on size reduction and complexity simplification: A review.Journal of advanced research · 2024Review
- ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies.European journal of human genetics : EJHG · 2023Article
- Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population.BMC psychiatry · 2023Article
- Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia.Diagnostics (Basel, Switzerland) · 2023Review
- Identification of candidate genes for developmental colour agnosia in a single unique family.PloS one · 2023Article
- Multiclass Cancer Prediction Based on Copy Number Variation Using Deep Learning.Computational intelligence and neuroscience · 2022Article
- CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.Nucleic acids research · 2021Article
- ClassifyCNV: a tool for clinical annotation of copy-number variants.Scientific reports · 2020Article
- REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis.Molecular genetics & genomic medicine · 2020Article
- Analysis of Chromosomal Copy Number in First-Trimester Pregnancy Loss Using Next-Generation Sequencing.Frontiers in genetics · 2020Article
- A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome.Molecular syndromology · 2018Article
- Characterization of brain tumor initiating cells isolated from an animal model of CNS primitive neuroectodermal tumors.Oncotarget · 2018Article
- iCopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization.PloS one · 2018Article
- Article
- CNV analysis in the Lithuanian population.BMC genetics · 2016Article
- Whole-genome mutational burden analysis of three pluripotency induction methods.Nature communications · 2016Article
- Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts.BMC bioinformatics · 2016Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
purposeCopy-number variants have been associated with a variety of diseases, especially cancer, autism, schizophrenia, and developmental delay. The majority of clinically relevant events occur de novo, necessitating the interpretation of novel events. In this light, we present the Scripps Genome ADVISER CNV annotation pipeline and Web server, which aims to fill the gap between copy number variant detection and interpretation by performing in-depth annotations and functional predictions for copy number variants.
methodsThe Scripps Genome ADVISER CNV suite includes a Web server interface to a high-performance computing environment for calculations of annotations and a table-based user interface that allows for the execution of numerous annotation-based variant filtration strategies and statistics.
resultsThe annotation results include details regarding location, impact on the coding portion of genes, allele frequency information (including allele frequencies from the Scripps Wellderly cohort), and overlap information with other reference data sets (including ClinVar, DGV, DECIPHER). A summary variant classification is produced (ADVISER score) based on the American College of Medical Genetics and Genomics scoring guidelines. We demonstrate >90% sensitivity/specificity for detection of pathogenic events.
conclusionScripps Genome ADVISER CNV is designed to allow users with no prior bioinformatics expertise to manipulate large volumes of copy-number variant data. Scripps Genome ADVISER CNV is available at http://genomics.scripps.edu/ADVISER/.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.