High-performance computing to detect epistasis in genome scale data sets

A Upton, O Trelles, JA Cornejo-García… - Briefings in …, 2016 - academic.oup.com
It is becoming clear that most human diseases have a complex etiology that cannot be
explained by single nucleotide polymorphisms (SNPs) or simple additive combinations; the …

Quantitative trait locus (xQTL) approaches identify risk genes and drug targets from human non-coding genomes

M Bykova, Y Hou, C Eng, F Cheng - Human Molecular Genetics, 2022 - academic.oup.com
Advances and reduction of costs in various sequencing technologies allow for a closer look
at variations present in the non-coding regions of the human genome. Correlating non …

Information theory in computational biology: where we stand today

P Chanda, E Costa, J Hu, S Sukumar, J Van Hemert… - Entropy, 2020 - mdpi.com
“A Mathematical Theory of Communication” was published in 1948 by Claude Shannon to
address the problems in the field of data compression and communication over (noisy) …

Common variants of pro-inflammatory gene IL1B and interactions with PPP1R13L and POLR1G in relation to lung cancer among Northeast Chinese

J Yin, C Wang, U Vogel, Y Ma, Y Zhang, H Wang… - Scientific Reports, 2023 - nature.com
Lung cancer is a complex disease influenced by a variety of genetic and environmental
factors. The cytokine interleukin 1 encoded by IL1B is an important mediator of the …

Discovering SNP-disease relationships in genome-wide SNP data using an improved harmony search based on SNP locus and genetic inheritance patterns

F Esmaeili, Z Narimani, M Vasighi - Plos one, 2023 - journals.plos.org
Advances in high-throughput sequencing technologies have made it possible to access
millions of measurements from thousands of people. Single nucleotide polymorphisms …

Selecting variants of unknown significance through network-based gene-association significantly improves risk prediction for disease-control cohorts

A Oulas, G Minadakis, M Zachariou, GM Spyrou - Scientific Reports, 2019 - nature.com
Variants of unknown/uncertain significance (VUS) pose a huge dilemma in current genetic
variation screening methods and genetic counselling. Driven by methods of next generation …

The genetic component of human longevity: New insights from the analysis of pathway‐based SNP‐SNP interactions

S Dato, M Soerensen, F De Rango, G Rose… - Aging …, 2018 - Wiley Online Library
In human longevity studies, single nucleotide polymorphism (SNP) analysis identified a
large number of genetic variants with small effects, yet not easily replicable in different …

Interactions between the genes of vasodilatation pathways influence blood pressure and nitric oxide level in hypertension

R Kumar, S Kohli, A Mishra, R Garg… - American journal of …, 2015 - academic.oup.com
BACKGROUND This study investigates the contribution of genetic interactions between the
β-2 adrenergic receptor (ADRB2) and nitric oxide synthase (NOS3) genes to the complex …

Searching high-order SNP combinations for complex diseases based on energy distribution difference

X Ding, J Wang, A Zelikovsky, X Guo… - … /ACM Transactions on …, 2014 - ieeexplore.ieee.org
Single nucleotide polymorphisms, a dominant type of genetic variants, have been used
successfully to identify defective genes causing human single gene diseases. However …

Research on single nucleotide polymorphisms interaction detection from network perspective

L Su, G Liu, H Wang, Y Tian, Z Zhou, L Han, L Yan - PLoS One, 2015 - journals.plos.org
Single Nucleotide Polymorphisms (SNPs) found in Genome-Wide Association Study
(GWAS) mainly influence the susceptibility of complex diseases, but they still could not …