Motivation: Recent studies sequenced tumor samples from the same progenitor at different devel-opment stages and showed that by taking into account the phylogeny of this development, single-nucleotide variant (SNV) calling can be improved. Accurate SNV calls can better reveal early-stage tumors, identify mechanisms of cancer progression or help in drug targeting. Results: We present SNV-PPILP, a fast and easy to use tool for refining GATK’s Unified Genotyper SNV calls, for multiple samples assumed to form a phylogeny. We tested SNV-PPILP on simulated data, with a varying number of samples, SNVs, read coverage and violations of the perfect phylogeny assumption. We always match or improve the accuracy of GATK, with a significant improvement o...
Background: In the course of our whole-genome sequencing efforts, we have developed a pipeline for a...
Background: Cancer progression reconstruction is an important development stemming from the phylogen...
Next generation sequencing (NGS) technology provides researchers an opportunity to study cancer gen...
Motivation: Recent studies sequenced tumor samples from the same progenitor at different development...
An accurate phylogeny of a cancer tumour has the potential to shed light on numerous phenomena, such...
Over the last decade, the advent of high-throughput sequencing (HTS) has given us the ability to stu...
The rapid development of high-throughput sequencing technology provides a new chance to extend the s...
BACKGROUND Next-generation sequencing of matched tumor and normal biopsy pairs has become a technol...
Targeted genomic sequencing (TS) greatly benefits precision oncology by rapidly detecting genetic va...
Background: Accurate calling of SNPs and genotypes from next-generation sequencing data is an essent...
Funding: Cancer Research UK grant C14303/A17197. Funding for open access charge: University of Cambr...
Cancer, which affects hundreds of thousands of people worldwide every year and costs billions in tre...
Precision medicine attempts to individualize cancer therapy by matching tumor-specific genetic chang...
Somatic single nucleotide variants (SNVs) are mutations resulting from the substitution of a single ...
Summary:Copy number variation is an important and abundant source of variation in the human genome, ...
Background: In the course of our whole-genome sequencing efforts, we have developed a pipeline for a...
Background: Cancer progression reconstruction is an important development stemming from the phylogen...
Next generation sequencing (NGS) technology provides researchers an opportunity to study cancer gen...
Motivation: Recent studies sequenced tumor samples from the same progenitor at different development...
An accurate phylogeny of a cancer tumour has the potential to shed light on numerous phenomena, such...
Over the last decade, the advent of high-throughput sequencing (HTS) has given us the ability to stu...
The rapid development of high-throughput sequencing technology provides a new chance to extend the s...
BACKGROUND Next-generation sequencing of matched tumor and normal biopsy pairs has become a technol...
Targeted genomic sequencing (TS) greatly benefits precision oncology by rapidly detecting genetic va...
Background: Accurate calling of SNPs and genotypes from next-generation sequencing data is an essent...
Funding: Cancer Research UK grant C14303/A17197. Funding for open access charge: University of Cambr...
Cancer, which affects hundreds of thousands of people worldwide every year and costs billions in tre...
Precision medicine attempts to individualize cancer therapy by matching tumor-specific genetic chang...
Somatic single nucleotide variants (SNVs) are mutations resulting from the substitution of a single ...
Summary:Copy number variation is an important and abundant source of variation in the human genome, ...
Background: In the course of our whole-genome sequencing efforts, we have developed a pipeline for a...
Background: Cancer progression reconstruction is an important development stemming from the phylogen...
Next generation sequencing (NGS) technology provides researchers an opportunity to study cancer gen...