Edited by Yuriy Orlov, Ancha Baranova and Tatiana Tatarinova.
Citation: BMC Medical Genomics 2020 13(Suppl 8):127
Volume 13 Supplement 8
Selected Topics in “Systems Biology and Bioinformatics” - 2019: medical genomics
Research
Publication of this supplement has not been supported by sponsorship. Information about the source of funding for publication charges can be found in the individual articles. The articles have undergone the journal's standard peer review process for supplements. The Supplement Editors were not involved in the review of any articles they co-authored. No other competing interests were declared.
Novosibirsk, Russia24-28 June 2019
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Cancer gene expression profiles associated with clinical outcomes to chemotherapy treatments
Machine learning (ML) methods still have limited applicability in personalized oncology due to low numbers of available clinically annotated molecular profiles. This doesn’t allow sufficient training of ML cla...
Citation: BMC Medical Genomics 2020 13(Suppl 8):111
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Genome scale analysis of pathogenic variants targetable for single base editing
Single nucleotide variants account for approximately 90% of all known pathogenic variants responsible for human diseases. Recently discovered CRISPR/Cas9 base editors can correct individual nucleotides without...
Citation: BMC Medical Genomics 2020 13(Suppl 8):80
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Mutation profiling in eight cases of vagal paragangliomas
Vagal paragangliomas (VPGLs) belong to a group of rare head and neck neuroendocrine tumors. VPGLs arise from the vagus nerve and are less common than carotid paragangliomas. Both diagnostics and therapy of the...
Citation: BMC Medical Genomics 2020 13(Suppl 8):115
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miRNAs expression signature potentially associated with lymphatic dissemination in locally advanced prostate cancer
Prostate cancer is one of the most common and socially significant cancers among men. The aim of our study was to reveal changes in miRNA expression profiles associated with lymphatic dissemination in prostate...
Citation: BMC Medical Genomics 2020 13(Suppl 8):129
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A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region
Because of the significant occurrence of “WAGR-region” deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its help in making ...
Citation: BMC Medical Genomics 2020 13(Suppl 8):130
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Multiple paragangliomas: a case report
Carotid and vagal paragangliomas (CPGLs and VPGLs) are rare neoplasms that arise from the paraganglia located at the bifurcation of carotid arteries and vagal trunk, respectively. Both tumors can occur jointly...
Citation: BMC Medical Genomics 2020 13(Suppl 8):125
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