Comparing variant calling tools for genomic analysis of patients predisposed to Kidney Disease

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216305%3A26220%2F26%3A0197919" target="_blank" >RIV/00216305:26220/26:0197919 - isvavai.cz</a>

Result on the web

<a href="https://www.eeict.cz/eeict_download/archiv/sborniky/EEICT_2025_sbornik_1.pdf" target="_blank" >https://www.eeict.cz/eeict_download/archiv/sborniky/EEICT_2025_sbornik_1.pdf</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Comparing variant calling tools for genomic analysis of patients predisposed to Kidney Disease

Original language description

This study compares various variant calling tools for the analysis of genomic data from patients predisposed to kidney disease and evaluates algorithms for identifying genetic variants that may contribute to the pathogenesis of these conditions. The aim is to assess the performance of these tools, focusing on their sensitivity and specificity in detecting specific pathogenic variants. The study tests three variant calling tools on genomic data from four selected patients sequenced at the University Hospital Ostrava. It compares different variant calling approaches, emphasizing their impact on the accuracy and efficiency of identifying relevant genetic variants. The tools were selected based on their widespread usage, strong benchmarking performance in prior studies, and compatibility with the Sarek pipeline, making them the most modern approaches in variant calling, suitable for both research and clinical applications. As part of this study, high-throughput sequencing data will be analysed, and methods for variant detection will be evaluated at different levels of precision and sensitivity.

Czech name

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Czech description

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Type

D - Article in proceedings

CEP classification

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OECD FORD branch

10201 - Computer sciences, information science, bioinformathics (hardware development to be 2.2, social aspect to be 5.8)

Project

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Continuities

S - Specificky vyzkum na vysokych skolach

Publication year

2025

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Article name in the collection

Proceedings I of the 31st Conference STUDENT EEICT 2025

ISBN

978-80-214-6321-9

ISSN

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e-ISSN

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Number of pages

5

Pages from-to

226-230

Publisher name

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Place of publication

Brno

Event location

Brno

Event date

Apr 29, 2025

Type of event by nationality

WRD - Celosvětová akce

UT code for WoS article

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