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Article
Open AccessDeep oncopanel sequencing reveals within block position-dependent quality degradation in FFPE processed samples
Clinical laboratories routinely use formalin-fixed paraffin-embedded (FFPE) tissue or cell block cytology samples in oncology panel sequencing to identify mutations that can predict patient response to targete...
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Article
Open AccessA verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency
Oncopanel genomic testing, which identifies important somatic variants, is increasingly common in medical practice and especially in clinical trials. Currently, there is a paucity of reliable genomic reference...
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Article
Open AccessCross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions
Targeted sequencing using oncopanels requires comprehensive assessments of accuracy and detection sensitivity to ensure analytical validity. By employing reference materials characterized by the U.S. Food and ...
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Article
Open AccessDe novo assembly and characterization of breast cancer transcriptomes identifies large numbers of novel fusion-gene transcripts of potential functional significance
Gene-fusion or chimeric transcripts have been implicated in the onset and progression of a variety of cancers. Massively parallel RNA sequencing (RNA-Seq) of the cellular transcriptome is a promising approach ...
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Article
Open AccessIntegrated sequence and expression analysis of ovarian cancer structural variants underscores the importance of gene fusion regulation
Genomic rearrangements or structural variants (SVs) are one of the most common classes of mutations in cancer.
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Article
Open AccessCharacterization and potential functional significance of human-chimpanzee large INDEL variation
Although humans and chimpanzees have accumulated significant differences in a number of phenotypic traits since diverging from a common ancestor about six million years ago, their genomes are more than 98.5% i...
