Articles with "chromosomal imbalances" as a keyword



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Chromosomal imbalances detected via RNA-sequencing in 28 cancers

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Published in 2022 at "Bioinformatics"

DOI: 10.1093/bioinformatics/btab861

Abstract: Abstract Motivation RNA-sequencing (RNA-seq) of tumor tissue is typically only used to measure gene expression. Here, we present a statistical approach that leverages existing RNA-seq data to also detect somatic copy number alterations (SCNAs), a… read more here.

Keywords: detected via; rna sequencing; rna seq; rna ... See more keywords
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Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.

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Published in 2023 at "European journal of medical genetics"

DOI: 10.2139/ssrn.4240460

Abstract: Differences of sex development (DSDs) are a group of congenital conditions characterized by a discrepancy between chromosomal, gonadal, and genital sex development of an individual, with significant impact on medical, psychological and reproductive life. The… read more here.

Keywords: dsds; imbalances pathogenesis; pathogenesis dsd; role chromosomal ... See more keywords