Aneuvis: web-based exploration of numerical chromosomal variation in single cells

BackgroundNumerical chromosomal variation is a hallmark of populations of malignant cells. Identifying the factors that promote numerical chromosomal variation is important for understanding mechanisms of carcinogenesis. However, the ability to quantify and visualize differences in chromosome number between experimentally-defined groups (e.g. control vs treated) obtained from single-cell experiments is currently limited by the lack of user-friendly software.ResultsAneuvis is a web application that allows users to determine whether numerical chromosomal variation exists between experimental treatment groups. The web interface allows users to upload molecular cytogenetic or processed single cell whole-genome sequencing data in a cell-by-chromosome matrix format and automatically generates visualizations and summary statistics that reflect the degree of numeric chromosomal variability.ConclusionsAneuvis is the first user-friendly web application to help researchers identify the genetic and environmental perturbations that promote numerical chromosomal variation. Aneuvis is freely available as a web application at https://dpique.shinyapps.io/aneuvis/ and the source code for the application is available at https://github.com/dpique/aneuvis.

[1]  D. Wong,et al.  Genome-wide characterisation and expression profile of the grapevine ATL ubiquitin ligase family reveal biotic and abiotic stress-responsive and development-related members , 2016, Scientific Reports.

[2]  A. Zetterberg,et al.  DNA Amplifications and Aneuploidy, High Proliferative Activity and Impaired Cell Cycle Control Characterize Breast Carcinomas with Poor Prognosis , 2003, Analytical cellular pathology : the journal of the European Society for Analytical Cellular Pathology.

[3]  E. Schröck,et al.  Genomic changes defining the genesis, progression, and malignancy potential in solid human tumors: A phenotype/genotype correlation , 1999, Genes, chromosomes & cancer.

[4]  B. Rosen,et al.  Distinct patterns of structural and numerical chromosomal instability characterize sporadic ovarian cancer. , 2008, Neoplasia.

[5]  J. Froines,et al.  Organophosphorous pesticide exposure increases the frequency of sperm sex null aneuploidy. , 2001, Environmental health perspectives.

[6]  L. Santambrogio,et al.  Whole Chromosome Instability induces senescence and promotes SASP , 2016, Scientific Reports.

[7]  S. Freeman,et al.  Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects , 2009, Human Genetics.

[8]  Y. Benjamini,et al.  Controlling the false discovery rate: a practical and powerful approach to multiple testing , 1995 .

[9]  J. Troge,et al.  Tumour evolution inferred by single-cell sequencing , 2011, Nature.

[10]  Guido Jenster,et al.  SNPitty: An Intuitive Web Application for Interactive B-Allele Frequency and Copy Number Visualization of Next-Generation Sequencing Data. , 2018, The Journal of molecular diagnostics : JMD.

[11]  Reinhard Ullmann,et al.  GenomeCAT: a versatile tool for the analysis and integrative visualization of DNA copy number variants , 2017, BMC Bioinformatics.

[12]  C. Swanton,et al.  Determinants and clinical implications of chromosomal instability in cancer , 2018, Nature Reviews Clinical Oncology.

[13]  Victor Guryev,et al.  Single-cell sequencing reveals karyotype heterogeneity in murine and human malignancies , 2016, Genome Biology.

[14]  Jana Marie Schwarz,et al.  CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts , 2013, Journal of Medical Genetics.

[15]  P. Lansdorp,et al.  How to count chromosomes in a cell: An overview of current and novel technologies , 2015, BioEssays : news and reviews in molecular, cellular and developmental biology.

[16]  M. Speicher,et al.  Defining 'chromosomal instability'. , 2008, Trends in genetics : TIG.

[17]  Ashton C. Berger,et al.  Genomic and Functional Approaches to Understanding Cancer Aneuploidy. , 2018, Cancer cell.

[18]  Michael C. Schatz,et al.  Interactive analysis and assessment of single-cell copy-number variations , 2015, Nature Methods.