Multi-factor data normalization enables the detection of copy number aberrations in amplicon sequencing data
نویسندگان
چکیده
منابع مشابه
Multi-factor data normalization enables the detection of copy number aberrations in amplicon sequencing data
MOTIVATION Because of its low cost, amplicon sequencing, also known as ultra-deep targeted sequencing, is now becoming widely used in oncology for detection of actionable mutations, i.e. mutations influencing cell sensitivity to targeted therapies. Amplicon sequencing is based on the polymerase chain reaction amplification of the regions of interest, a process that considerably distorts the inf...
متن کاملIoncopy: a novel method for calling copy number alterations in amplicon sequencing data including significance assessment
Recently, it has been demonstrated that calling of copy number alterations (CNAs) from amplicon sequencing (AS) data is feasible. Most approaches, however, require non-tumor (germline) DNA for data normalization. Here, we present the method Ioncopy for CNA detection which requires no normal controls and includes a significance assessment for each detected alteration.Ioncopy was evaluated in a c...
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هدف از این تحقیق، ارزیابی و بهبود متریک های موجود جهت تایید صحت نقشه های قدیمی سه بعدی برداری با استفاده از ابر نقطه حاصل از لیزر اسکن جدید شهر اصفهان می باشد . بنابراین ابر نقطه حاصل از لیزر اسکنر با چگالی حدودا سه نقطه در هر متر مربع جهت شناسایی عوارض تغییر کرده در نقشه های قدیمی سه بعدی استفاده شده است. تمرکز ما در این تحقیق بر روی ساختمان به عنوان یکی از اصلی ترین عارضه های شهری می باشد. من...
Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization
SUMMARY We present a tool for control-free copy number alteration (CNA) detection using deep-sequencing data, particularly useful for cancer studies. The tool deals with two frequent problems in the analysis of cancer deep-sequencing data: absence of control sample and possible polyploidy of cancer cells. FREEC (control-FREE Copy number caller) automatically normalizes and segments copy number ...
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High-resolution array comparative genomic hybridization (aCGH) provides exon-level mapping of DNA aberrations in cells or tissues. Such aberrations are central to carcinogenesis and, in many cases, central to targeted therapy of the cancers. Some of the aberrations are sporadic, one-of-a-kind changes in particular tumor samples; others occur frequently and reflect common themes in cancer biolog...
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2014
ISSN: 1460-2059,1367-4803
DOI: 10.1093/bioinformatics/btu436