Browsing Fakultet for medisin og helsevitenskap (MH) by Journals "BMC Medical Genomics"
Now showing items 1-5 of 5
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Detecting copy number variation in next generation sequencing data from diagnostic gene panels
(Journal article; Peer reviewed, 2021)Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. ... -
Detecting copy number variation in next generation sequencing data from diagnostic gene panels
(Peer reviewed; Journal article, 2021)Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. ... -
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing
(Peer reviewed; Journal article, 2023)Background Hereditary genetic mutations causing predisposition to colorectal cancer are accountable for approximately 30% of all colorectal cancer cases. However, only a small fraction of these are high penetrant mutations ... -
DNA hypermethylation associated with upregulated gene expression in prostate cancer demonstrates the diversity of epigenetic regulation
(Journal article; Peer reviewed, 2020)Background Prostate cancer (PCa) has the highest incidence rates of cancers in men in western countries. Unlike several other types of cancer, PCa has few genetic drivers, which has led researchers to look for additional ... -
Gene signatures ESC, MYC and ERG-fusion are early markers of a potentially dangerous subtype of prostate cancer
(Journal article; Peer reviewed, 2014)Background Good prognostic tools for predicting disease progression in early stage prostate cancer (PCa) are still missing. Detection of molecular subtypes, for instance by using microarray gene technology, can give new ...