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 …

FIREVAT: finding reliable variants without artifacts in human cancer samples using etiologically relevant mutational signatures

H Kim, AJ Lee, J Lee, H Chun, YS Ju, D Hong - Genome Medicine, 2019 - Springer
Background Accurate identification of real somatic variants is a primary part of cancer
genome studies and precision oncology. However, artifacts introduced in various steps of …

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools

CA Garcia-Prieto, F Martínez-Jiménez… - …, 2022 - academic.oup.com
Motivation The analysis of cancer genomes provides fundamental information about its
etiology, the processes driving cell transformation or potential treatments. While researchers …

BrowseVCF: a web-based application and workflow to quickly prioritize disease-causative variants in VCF files

S Salatino, V Ramraj - Briefings in bioinformatics, 2017 - academic.oup.com
Following variant calling and annotation, accurate variant filtering is a crucial step to extract
meaningful information from sequencing data and to investigate disease aetiology …

CRAVAT 4: cancer-related analysis of variants toolkit

DL Masica, C Douville, C Tokheim, R Bhattacharya… - Cancer research, 2017 - AACR
Cancer sequencing studies are increasingly comprehensive and well powered, returning
long lists of somatic mutations that can be difficult to sort and interpret. Diligent analysis and …

FiNGS: high quality somatic mutations using filters for next generation sequencing

CP Wardell, C Ashby, MA Bauer - BMC bioinformatics, 2021 - Springer
Background Somatic variant callers are used to find mutations in sequencing data from
cancer samples. They are very sensitive and have high recall, but also may produce low …

SNooPer: a machine learning-based method for somatic variant identification from low-pass next-generation sequencing

JF Spinella, P Mehanna, R Vidal, V Saillour, P Cassart… - BMC genomics, 2016 - Springer
Background Next-generation sequencing (NGS) allows unbiased, in-depth interrogation of
cancer genomes. Many somatic variant callers have been developed yet accurate …

[图书][B] Knowledge Driven Approaches and Machine Learning Improve the Identification of Clinically Relevant Somatic Mutations in Cancer Genomics

BJ Ainscough - 2017 - search.proquest.com
For cancer genomics to fully expand its utility from research discovery to clinical adoption,
somatic variant detection pipelines must be optimized and standardized to ensure …

A survey of tools for variant analysis of next-generation genome sequencing data

S Pabinger, A Dander, M Fischer… - Briefings in …, 2014 - academic.oup.com
Recent advances in genome sequencing technologies provide unprecedented opportunities
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …

Detecting somatic point mutations in cancer genome sequencing data: a comparison of mutation callers

Q Wang, P Jia, F Li, H Chen, H Ji, D Hucks… - Genome medicine, 2013 - Springer
Background Driven by high throughput next generation sequencing technologies and the
pressing need to decipher cancer genomes, computational approaches for detecting …