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Bálint Nagy

dblp:37/7616 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2019
—ORCID · unresolved

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Medical and health informatics · 67% Bioinformatics and computational biology · 33%

Topics — the 3 heaviest of 3, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genomics › genomic data analysis
cell-free DNA analysis
0.412019
Combining count- and length-based z-scores leads to improved predictions in non-invasive prenatal testing · Bioinform. 2019
Medical and health informatics › clinical genomics › non-invasive prenatal testing
fetal aneuploidy detection
0.412019
Combining count- and length-based z-scores leads to improved predictions in non-invasive prenatal testing · Bioinform. 2019
Medical and health informatics › clinical genomics
non-invasive prenatal testing
0.412019
Combining count- and length-based z-scores leads to improved predictions in non-invasive prenatal testing · Bioinform. 2019

Methods — techniques the papers use, named apart from their topics

z-score · 0.4
YearPublicationVenuePosition
2019 Combining count- and length-based z-scores leads to improved predictions in non-invasive prenatal testing
abstract
MOTIVATION: Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable number of samples that cannot be concluded with certainty. Such uninformative results are often subject to repeated blood sampling and re-analysis, usually after two weeks, and this period may cause a stress to the future mothers as well as increase the overall cost of the test. RESULTS: We propose a supplementary method to traditional z-scores to reduce the number of such uninformative calls. The method is based on a novel analysis of the length profile of circulating cell free DNA which compares the change in such profiles when random-based and length-based elimination of some fragments is performed. The proposed method is not as accurate as the standard z-score; however, our results suggest that combination of these two independent methods correctly resolves a substantial portion of healthy samples with an uninformative result. Additionally, we discuss how the proposed method can be used to identify maternal aberrations, thus reducing the risk of false positive and false negative calls. AVAILABILITY AND IMPLEMENTATION: The open-source code of the proposed methods, together with test data, is freely available for non-commercial users at github web page https://github.com/jbudis/lambda. SUPPLEMENTARY INFORMATION: Supplementary materials are available at Bioinformatics online.
Jaroslav Budis, Juraj Gazdarica, Ján Radvánszky, Gábor Szücs, Marcel Kucharík, Lucia Strieskova, Iveta Gazdaricova, Maria Harsanyova, Frantisek Duris, Gabriel Minarik, Martina Sekelska, Bálint Nagy, Ján Turna, Tomás Szemes
Bioinform.12