implementing whole genome sequencing (WGS) in clinical practice: advantages, challenges, and future perspectives

P Brlek, L Bulić, M Bračić, P Projić, V Škaro, N Shah… - Cells, 2024 - mdpi.com
The integration of whole genome sequencing (WGS) into all aspects of modern medicine
represents the next step in the evolution of healthcare. Using this technology, scientists and …

Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow

OS Chumakova, NM Baulina - Frontiers in Cardiovascular Medicine, 2023 - frontiersin.org
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease
associated with morbidity and mortality at any age. As studies in recent decades have …

Prioritization of causal genes from genome-wide association studies by Bayesian data integration across loci

Z Mousavi, M Arvanitis, TV Duong… - PLoS computational …, 2025 - journals.plos.org
Motivation: Genome-wide association studies (GWAS) have identified genetic variants,
usually single-nucleotide polymorphisms (SNPs), associated with human traits, including …

Genome-wide association and transcriptomic analysis and the identification of growth-related genes in Macrobrachium nipponense

Z Gao, W Zhang, S Jiang, H Qiao, Y Xiong, S Jin, H Fu - BMC genomics, 2024 - Springer
Macrobrachium nipponense is a commercially important freshwater species of prawn that is
widely distributed across Asian countries. In order to investigate the molecular mechanisms …

[HTML][HTML] Associations between NKX2-5 gene polymorphisms and congenital heart disease in the Chinese Tibetan population

Q Ma, Y Yang, Y Liu - American Journal of Translational Research, 2022 - ncbi.nlm.nih.gov
Background: The pathogenesis of congenital heart disease (CHD) has not been fully
elucidated, and this study considers the interaction between inheritance and the …

Zebrafish as a Model for Osteoporosis: Functional Validations of Genome-Wide Association Studies

I Ben-Zvi, D Karasik, CL Ackert-Bicknell - Current Osteoporosis Reports, 2023 - Springer
Purpose of Review GWAS, as a largely correlational analysis, requires in vitro or in vivo
validation. Zebrafish (Danio rerio) have many advantages for studying the genetics of …

The future of whole genome sequencing in pediatrics

P Brlek, D Primorac - Liječnički vjesnik, 2023 - hrcak.srce.hr
Sekvenciranje cijeloga genoma (eng. Whole genome sequencing–WGS) postaje sve
zastupljeniji genetički dijagnostički test u svakodnevnoj kliničkoj praksi. Inicijativa za …

[HTML][HTML] HPTAD: A computational method to identify topologically associating domains from HiChIP and PLAC-seq datasets

J Rosen, L Lee, A Abnousi, J Chen, J Wen… - Computational and …, 2023 - Elsevier
High-throughput chromatin conformation capture technologies, such as Hi-C and Micro-C,
have enabled genome-wide view of chromatin spatial organization. Most recently, Hi-C …

SnapHiC-G: identifying long-range enhancer–promoter interactions from single-cell Hi-C data via a global background model

W Liu, W Zhong, P Giusti-Rodríguez… - Briefings in …, 2024 - academic.oup.com
Harnessing the power of single-cell genomics technologies, single-cell Hi-C (scHi-C) and its
derived technologies provide powerful tools to measure spatial proximity between regulatory …

[HTML][HTML] Loop Catalog: a comprehensive HiChIP database of human and mouse samples

J Reyna, K Fetter, R Ignacio, CCA Marandi, N Rao… - bioRxiv, 2024 - ncbi.nlm.nih.gov
HiChIP enables cost-effective and high-resolution profiling of regulatory and structural loops.
To leverage the increasing number of publicly available HiChIP datasets from diverse cell …