Copy number variant heterogeneity among cancer types reflects inconsistent concordance with diagnostic classifications

Paula Carrio Cordo and Michael Baudis

DNA copy number imbalances in primary cutaneous lymphomas (PCL)

Gug G, Huang Q, Chiticariu E, Solovan C and Baudis M (2018)

bioRxiv, 2018-09-14. doi:10.1101/417766

Minimum Error Calibration and Normalization for Genomic Copy Number Analysis.

Bo Gao and Michael Baudis (2019)

Enabling population assignment from cancer genomes with SNP2pop.

Huang Q and Baudis M. (2019)

bioRxiv, 2019-01-14. https://doi.org/10.1101/368647 (first version 2018-07-14)

Signatures of Discriminative Copy Number Aberrations in 31 Cancer Subtypes

Bo Gao and Michael Baudis (2021)

Accepted at Frontiers in Genetics, 2021-04-15

Abstract

Copy number aberrations (CNA) are one of the most important classes of genomic mutations relatedto oncogenetic effects. In the past three decades, a vast amount of CNA data has been generated bymolecular-cytogenetic and genome sequencing based methods. While this data has been instrumentalin the identification of cancer-related genes and promoted research into the relation between CNA andhisto-pathologically defined cancer types, the heterogeneity of source data and derived CNV profilespose great challenges for data integration and comparative analysis. Furthermore, a majority of exist-ing studies have been focused on the association of CNA to pre-selected ”driver” genes with limitedapplication to rare drivers and other genomic elements.

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation.

Wagner AH, Babb L, Alterovitz G, Baudis M, Brush M, Cameron DL, Cline M, Griffith M, Griffith O, Hunt S, Kreda D, Lee J, Lopez J, Moyer E, Nelson T, Patel RY, Riehle K, Robinson PN, Rynearson S, Schuilenburg H, Tsukanov K, Walsh B, Konopko M, Rehm H, Yates AD, Freimuth RR, Hart RK.

bioRxiv. 20212021.01.15.426843.

The Progenetix oncogenomic resource in 2021

Qingyao Huang, Paula Carrio Cordo, Bo Gao, Rahel Paloots, Michael Baudis

bioRxiv. doi: https://doi.org/10.1101/2021.02.15.428237

This article provides an overview of recent changes and additions to the Progenetix database and the services provided through the resource.