All-FIT: allele-frequency-based imputation of tumor purity from high-depth sequencing data
نویسندگان
چکیده
منابع مشابه
Evaluation of Allele Frequency Estimation Using Pooled Sequencing Data Simulation
Next-generation sequencing (NGS) technology has provided researchers with opportunities to study the genome in unprecedented detail. In particular, NGS is applied to disease association studies. Unlike genotyping chips, NGS is not limited to a fixed set of SNPs. Prices for NGS are now comparable to the SNP chip, although for large studies the cost can be substantial. Pooling techniques are ofte...
متن کاملTargeted High Depth Next Generation Sequencing of Tumor Specimens
We have developed a targeted next generation sequencing (NGS) methodology for sensitive DNA variant detection that is highly optimized for clinical specimens and enables the accurate detection of clinically actionable mutations from low input DNA quantities. This strategy provides reliable, uniform, and high depth (>1000x) sequencing across gene regions representing >500 known cancerassociated ...
متن کاملTargeted High Depth Next Generation Sequencing of Tumor Specimens
We have developed a targeted next generation sequencing (NGS) methodology for sensitive DNA variant detection that is highly optimized for clinical specimens and enables the accurate detection of clinically actionable mutations from low input DNA quantities. This strategy provides reliable, uniform, and high depth (>1000x) sequencing across gene regions representing >500 known cancerassociated ...
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Highlighting tumoral mutations is a key step in oncology for personalizing care. Considering the genetic heterogeneity in a tumor, software used for detecting mutations should clearly distinguish real tumor events of interest that could be predictive markers for personalized medicine from false positives. OutLyzer is a new variant-caller designed for the specific and sensitive detection of muta...
متن کاملGenotype-Frequency Estimation from High-Throughput Sequencing Data.
Rapidly improving high-throughput sequencing technologies provide unprecedented opportunities for carrying out population-genomic studies with various organisms. To take full advantage of these methods, it is essential to correctly estimate allele and genotype frequencies, and here we present a maximum-likelihood method that accomplishes these tasks. The proposed method fully accounts for uncer...
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2019
ISSN: 1367-4803,1460-2059
DOI: 10.1093/bioinformatics/btz865