Nikolett Szakállas

Active Human Transposable Elements: Long-Read Sequencing Technologies, Computational Analysis, and Implications for Human Disease

Dániel Vörösvácki, Nikolett Szakállas, Alexandra Kalmár, István Takács et autres

Transposable elements (TEs) account for nearly half of the human genome and shape chromatin organization, gene regulation, and genome evolution. However, their contributions to human physiology and disease remain incompletely understood. The most active elements in humans, LINE-1 (L1), Alu, and SVA, …

Circulating tumor cells: indicators of cancer progression, plasticity and utility for therapies

Tamás Richárd Linkner, Zsófia Brigitta Nagy, Alexandra Kalmár, Eszter Alexandra Farkas et autres

Cancer is a deadly disease affecting millions of people worldwide. Circulating tumor cells (CTCs) represent a critical link between primary malignancies and metastasis, acting as key players in cancer dissemination, progression, and recurrence. Although rare, CTCs offer a valuable, non-invasive window into …

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Methodological Comparison of Short-Read and Long-Read Sequencing Methods on Colorectal Cancer Samples

Nikolett Szakállas, Alexandra Kalmár, Kristóf Róbert Rada, Marianna Dimitrova Kucarov et autres

Colorectal cancer (CRC) is driven by a complex spectrum of somatic mutations and structural variants that contribute to tumor heterogeneity and therapy resistance. In this study, we performed a comparative analysis of short-read Illumina and long-read Nanopore sequencing technologies across multiple CRC …

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Examination of Genetic and Epigenetic Characteristics of Patients with Hyperhomocysteinemia Following High-Dose Folic Acid Consumption

Barbara Kinga Barták, Zsófia Brigitta Nagy, Nikolett Szakállas, Alexandra Kalmár et autres

Purpose: Homocysteine (HCY) metabolism is regulated by the methionine cycle, which is essential for DNA methylation and is associated with the folate cycle. This study examines the alterations in DNA methylation signature including epigenetic age changes, measure cell-free DNA (cfDNA), and HCY …

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Abstract 5080: Investigation of exome-wide tumor heterogeneity on colorectal tissue-based single cells

Nikolett Szakállas, Alexandra Kalmár, Barbara Kinga Barták, Béla Molnár et autres

Abstract The progression of colorectal cancer is highly influenced by various environmental and genetic conditions, however, we can highlight tumor heterogeneity presenting serious resistance to targeted therapies and having crucial effects on disease outcomes. Motivated by this issue, we aimed to develop …

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Abstract 1972: Utilization of flow cytometry for the characterization of mesenchymal and embryonic properties of circulating tumor cells

Tamás Richárd Linkner, Zsófia Brigitta Nagy, Nikolett Szakállas, Eszter Alexandra Farkas et autres

Abstract Background: Circulating tumor cells break off from the primary cancer tissue and enter into the bloodstream, where they reach the distant parts of the body where they can form metastases. The tumor cell could lose its adhesive properties and takes on …

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Abstract 1420: Long-read sequencing of single-stranded DNA of colorectal cancer patients

Bela Akos Molnar, Kristóf Róbert Rada, Nikolett Szakállas, Barbara Kinga Barták et autres

Abstract Introduction: The presence of single-stranded (ss) DNA in biological samples has been known for many years, but whole-genome level ssDNA sequencing has only recently become feasible due to advancements in technology. Aims & Methods: To investigate the potential role of ssDNA …

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Abstract 218: Long-read nanopore sequencing in pursuit of complete methylation profiling of Hungarian colorectal cancer patients

Kristóf Róbert Rada, Nikolett Szakállas, Barbara Kinga Barták, Alexandra Kalmár et autres

Abstract Introduction: Variations of the epigenetic landscape are the hallmark of many pathologies, including cancer. We investigated the Hungarian colorectal cancer cohort via Oxford Nanopore’s long-read whole-genome sequencing (WGS) platform to provide for the first time a genome-spanning methylation report of the …

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Investigation of Exome-Wide Tumor Heterogeneity on Colorectal Tissue-Based Single Cells

Nikolett Szakállas, Alexandra Kalmár, Barbara Kinga Barták, Zsófia Brigitta Nagy et autres

The progression of colorectal cancer is strongly influenced by environmental and genetic conditions. One of the key factors is tumor heterogeneity which is extensively studied by cfDNA and bulk sequencing methods; however, we lack knowledge regarding its effects at the single-cell level. …

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Can long-read sequencing tackle the barriers, which the next-generation could not? A review

Nikolett Szakállas, Barbara Kinga Barták, Gábor Valcz, Zsófia Brigitta Nagy et autres

The large-scale heterogeneity of genetic diseases necessitated the deeper examination of nucleotide sequence alterations enhancing the discovery of new targeted drug attack points. The appearance of new sequencing techniques was essential to get more interpretable genomic data. In contrast to the previous …

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