Xome-Blender: a novel cancer genome simulator

R Semeraro, V Orlandini, A Magi - PloS one, 2018 - journals.plos.org
The adoption of next generation sequencing based methods in cancer research allowed for
the investigation of the complex genetic structure of tumor samples. In the last few years …

Comparing the performance of selected variant callers using synthetic data and genome segmentation

X Bian, B Zhu, M Wang, Y Hu, Q Chen, C Nguyen… - BMC …, 2018 - Springer
Background High-throughput sequencing has rapidly become an essential part of precision
cancer medicine. But validating results obtained from analyzing and interpreting genomic …

SomaticCombiner: improving the performance of somatic variant calling based on evaluation tests and a consensus approach

M Wang, W Luo, K Jones, X Bian, R Williams… - Scientific reports, 2020 - nature.com
It is challenging to identify somatic variants from high-throughput sequence reads due to
tumor heterogeneity, sub-clonality, and sequencing artifacts. In this study, we evaluated the …

Combining accurate tumor genome simulation with crowdsourcing to benchmark somatic structural variant detection

AY Lee, AD Ewing, K Ellrott, Y Hu, KE Houlahan… - Genome biology, 2018 - Springer
Background The phenotypes of cancer cells are driven in part by somatic structural variants.
Structural variants can initiate tumors, enhance their aggressiveness, and provide unique …

NeoMutate: an ensemble machine learning framework for the prediction of somatic mutations in cancer

I Anzar, A Sverchkova, R Stratford, T Clancy - BMC medical genomics, 2019 - Springer
Background The accurate screening of tumor genomic landscapes for somatic mutations
using high-throughput sequencing involves a crucial step in precise clinical diagnosis and …

SMuRF: portable and accurate ensemble prediction of somatic mutations

W Huang, YA Guo, K Muthukumar, P Baruah… - …, 2019 - academic.oup.com
Somatic Mutation calling method using a Random Forest (SMuRF) integrates predictions
and auxiliary features from multiple somatic mutation callers using a supervised machine …

SNVSniffer: an integrated caller for germline and somatic single-nucleotide and indel mutations

Y Liu, M Loewer, S Aluru, B Schmidt - BMC Systems Biology, 2016 - Springer
Background Various approaches to calling single-nucleotide variants (SNVs) or insertion-or-
deletion (indel) mutations have been developed based on next-generation sequencing …

vcfView: an extensible data visualization and quality assurance platform for integrated somatic variant analysis

B O'Sullivan, C Seoighe - Cancer Informatics, 2020 - journals.sagepub.com
Motivation: Somatic mutations can have critical prognostic and therapeutic implications for
cancer patients. Although targeted methods are often used to assay specific cancer driver …

tHapMix: simulating tumour samples through haplotype mixtures

S Ivakhno, C Colombo, S Tanner, P Tedder… - …, 2017 - academic.oup.com
Motivation Large-scale rearrangements and copy number changes combined with different
modes of clonal evolution create extensive somatic genome diversity, making it difficult to …

CoVaCS: a consensus variant calling system

M Chiara, S Gioiosa, G Chillemi, M D'Antonio, T Flati… - BMC genomics, 2018 - Springer
Background The advent and ongoing development of next generation sequencing
technologies (NGS) has led to a rapid increase in the rate of human genome re-sequencing …