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3689 results

Full text 2026

Decoding disease and therapy through multiomics integration and systems analysis

Mathew MJ, Mathew J, Chacko RM, et al.

Computational multiomics methods are based on machine learning methods, and are primarily used for classifying patients into subtypes, discovering novel biomarkers, drug repurposing, and advancing precision medicine. Advances in high-throughput technologies have enabled comprehensive profiling …

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Bioinformatics
Full text 2026

Integrative Genomic Analysis Reveals Pseudouridine Modification-Related Gene Signatures Associated With Prognosis and Therapeutic Response Patterns in Hepatocellular Carcinoma

Gan Z, Fan T, Wang W, et al.

<h4>Background</h4>Hepatocellular carcinoma (HCC) is a genomically heterogeneous malignancy with substantial variability in prognosis and therapeutic response. Pseudouridine (<i>Ψ</i>) modification is an evolutionarily conserved RNA modification involved in RNA structure stabilization and translational regulation; however, the …

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Bioinformatics Transcriptomics
Full text 2026

ABRF 2026 Meeting Report

Rappoport JZ, Adams M.

The 2026 Association of Biomolecular Resource Facilities (ABRF) annual meeting took place in Pittsburgh, Pennsylvania, from March 28-31, 2026, and brought scientific core directors, core staff, institutional leadership, and industry partners together into community to …

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Bioinformatics
Full text 2026

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity

Jadhav T, Bouffler SE, Innes E, et al.

<h4>Objective</h4>To determine whether prompt genetic diagnosis in children with KCNQ2 neonatal epilepsy enabling targeted therapy is associated with improved outcomes, and identify early predictors of developmental outcomes.<h4>Methods</h4>Thirty-seven children with KCNQ2 neonatal epilepsy were recruited from …

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Bioinformatics
Full text 2026

Accurate imputation of African cattle genomes using a diverse reference panel

Ng'ang'a SI, Ward JA, Rossiter SJ, et al.

<h4>Background</h4>In cattle, most commercial single-nucleotide polymorphism (SNP) genotyping arrays have been shown to be suboptimal for capturing genomic variation in non-European populations, particularly in African cattle. Low-coverage whole-genome sequencing (LCWGS) followed by imputation provides a …

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Bioinformatics
Full text 2026

Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants

Futema M, Bird M, Haeger A, et al.

<h4>Background</h4>Heterozygous Familial Hypercholesterolaemia (HeFH) is caused by pathogenic variants in <i>LDLR</i>, <i>APOB</i>, <i>APOE</i> or <i>PCSK9</i>, leading to elevated low-density lipoprotein-cholesterol and increased cardiovascular risk. In the UK, HeFH affects ~1 in 288 individuals. The 100 …

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Bioinformatics
Full text 2026

GeneScanner: profiling genetic variation across bacterial populations

Kobras CM, Ko S, Raikwar PS, et al.

Rapid, low-cost genome sequencing has transformed microbiology, advancing efforts to link genetic and phenotypic variation across diverse bacterial systems. Laboratory functional screens now uncover causal mechanisms underlying key traits in simplified systems, such as drug …

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Bioinformatics