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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…
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Keywords:
detected via;
rna sequencing;
rna seq;
rna ... See more keywords
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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…
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Keywords:
dsds;
imbalances pathogenesis;
pathogenesis dsd;
role chromosomal ... See more keywords