ArticleOncology letters2018
Detection of copy number variants and loss of heterozygosity from impure tumor samples using whole exome sequencing data.
Article in Oncology letters, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed, 6 citations in OpenAlex.
- Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Detection of copy number variants in African goats using whole genome sequence data.BMC genomics · 2021Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Using whole-exome sequencing (WES) for the detection of chromosomal aberrations from tumor samples has become increasingly popular, as it is cost-effective and time efficient. However, factors which present in WES tumor samples, including diversity in exon size, batch effect and tumor impurity, can complicate the identification of somatic mutation in each region of the exon. To address these issues, the authors of the present study have developed a novel method, PECNV, for the detection of genomic copy number variants and loss of heterozygosity in WES datasets. PECNV combines normalized logarithm ratio of read counts (Log Ratio) and B allele frequency (BAF), and then employs expectation maximization (EM) algorithm to estimate parameters involved in the models. A comprehensive assessment of PECNV of PECNV was performed by analyzing simulated datasets contaminated with different normal cell proportion and eight real primary triple-negative breast cancer samples. PECNV demonstrated superior results compared with ExomeCNV and EXCAVATOR for the detection of genomic aberrations in WES data.
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Registered trials
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