Allele-specific multi-sample copy number segmentation in ASCAT
نویسندگان
چکیده
منابع مشابه
Allele-specific copy number analysis of tumors.
We present an allele-specific copy number analysis of the in vivo breast cancer genome. We describe a unique bioinformatics approach, ASCAT (allele-specific copy number analysis of tumors), to accurately dissect the allele-specific copy number of solid tumors, simultaneously estimating and adjusting for both tumor ploidy and nonaberrant cell admixture. This allows calculation of "ASCAT profiles...
متن کاملAllele-specific copy number profiling by next-generation DNA sequencing
The progression and clonal development of tumors often involve amplifications and deletions of genomic DNA. Estimation of allele-specific copy number, which quantifies the number of copies of each allele at each variant loci rather than the total number of chromosome copies, is an important step in the characterization of tumor genomes and the inference of their clonal history. We describe a ne...
متن کاملEstimating Genome-Wide Copy Number Using Allele Specific Mixture Models
Genomic changes such as copy number alterations are one of the major underlying causes of human phenotypic variation among normal and disease subjects. Array comparative genomic hybridization (CGH) technology was developed to detect copy number changes in a high-throughput fashion. However, this technology provides only a >30-kb resolution, which limits the ability to detect copy number alterat...
متن کاملMulti-platform segmentation for joint detection of copy number variants
MOTIVATION With the expansion of whole-genome studies, there is rapid evolution of genotyping platforms. This leads to practical issues such as upgrading of genotyping equipment which often results in research groups having data from different platforms for the same samples. While having more data can potentially yield more accurate copy-number estimates, combining such data is not straightforw...
متن کاملCalMaTe: a method and software to improve allele-specific copy number of SNP arrays for downstream segmentation
SUMMARY CalMaTe calibrates preprocessed allele-specific copy number estimates (ASCNs) from DNA microarrays by controlling for single-nucleotide polymorphism-specific allelic crosstalk. The resulting ASCNs are on average more accurate, which increases the power of segmentation methods for detecting changes between copy number states in tumor studies including copy neutral loss of heterozygosity....
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2020
ISSN: 1367-4803,1460-2059
DOI: 10.1093/bioinformatics/btaa538