标签归档:WGS

2016
12-14
Inferring expressed genes by whole-genome sequencing of plasma DNA Abstract The analysis of cell-free DNA (cfDNA) in plasma represents a rapidly advancing field in medicine. cfDNA consists predomi.... Read More >
2016
12-14
Clonal evolution of chemotherapy-resistant urothelial carcinoma Abstract Chemotherapy-resistant urothelial carcinoma has no uniformly curative the.... Read More >
2016
01-26
Assessment of megabase-scale somatic copy number variation using single cell sequencing Megabase-scale copy number variants (CNVs) can have profound phenotypic consequences. Germline CNVs of this mag.... Read More >
2015
12-17
Abstract Much of cancer genetics research has focused on the identification of the most-important somatic mutations ('major drivers') that cause tu.... Read More >
2015
12-17
IMPORTANCE: Evolutionary medicine may provide insights into human physiology and pathophysiology, including tumor biology. OBJECTIVE: To identify.... Read More >
2015
12-17
Genetic variation and the de novo assembly of human genomes. Abstract The discovery of genetic variation and the assembly of genome sequences .... Read More >
2015
12-17
Integrated molecular analysis of adult T cell leukemia/lymphoma Abstract Adult T cell leukemia/lymphoma (ATL) is a peripheral T cell neoplasm of largely unknown genetic basis, associated with hu.... Read More >
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2015
12-16
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Abstract The extent to which low-frequency (minor allele frequency (MAF) between 1-5%) and rare (MAF ≤ 1%) var.... Read More >
2015
12-16
Genetic Landscape of Human Papillomavirus-Associated Head and Neck Cancer and Comparison to Tobacco-Related Tumors. Abstract Head and neck cancer is the fifth most common cancer worldwide. It is oft.... Read More >
2015
07-09
概括:目前来说,诊断WGS和WES的CNV检测工具非常多,比如常用的control-freec,但是对于肿瘤中FFPE样本,存在一定的局限性。表现在:FFPE由于降解严重,GC抖动,倍性异常导致准确SV及CNV的calling 较为困难,假阳性率较高。如下图样本,严重降解的FFPE样本,DNA条带&.... Read More >