Next-generation data filtering in the genomics era

W Hemstrom, JA Grummer, G Luikart… - Nature Reviews …, 2024 - nature.com
Genomic data are ubiquitous across disciplines, from agriculture to biodiversity, ecology,
evolution and human health. However, these datasets often contain noise or errors and are …

Applications of advanced technologies for detecting genomic structural variation

VA Laufer, TW Glover, TE Wilson - Mutation Research/Reviews in Mutation …, 2023 - Elsevier
Chromosomal structural variation (SV) encompasses a heterogenous class of genetic
variants that exerts strong influences on human health and disease. Despite their …

Benchmarking UMI-aware and standard variant callers for low frequency ctDNA variant detection

R Maruzani, L Brierley, A Jorgensen, A Fowler - BMC genomics, 2024 - Springer
Abstract Background Circulating tumour DNA (ctDNA) is a subset of cell free DNA (cfDNA)
released by tumour cells into the bloodstream. Circulating tumour DNA has shown great …

Differential tumor immune microenvironment coupled with tumor progression or tumor eradication in HPV-antigen expressing squamous cell carcinoma (SCC) models

AH Shivarudrappa, J John, M Vashisht, H Ge… - Frontiers in …, 2024 - frontiersin.org
Human papilloma virus (HPV) is an etiological factor of head and neck squamous cell
carcinoma (HNSCC). To investigate the role of HPV antigen in anti-tumor immunity, we …

Fast and accurate variant identification tool for sequencing-based studies

JM Gaston, EJ Alm, AN Zhang - BMC biology, 2024 - Springer
Background Accurate identification of genetic variants, such as point mutations and
insertions/deletions (indels), is crucial for various genetic studies into epidemic tracking …

Reduced-representation libraries in insect genetics

KR Hopper - Current Opinion in Insect Science, 2023 - Elsevier
Genoty**-by-sequencing of reduced-representation libraries has ushered in an era where
genome-wide data can be gotten for any species. Here, I review research on this topic …

The TiHoCL panel for canine lymphoma: a feasibility study integrating functional genomics and network biology approaches for comparative oncology targeted NGS …

S Fibi-Smetana, C Inglis, D Schuster… - Frontiers in veterinary …, 2023 - frontiersin.org
Targeted next-generation sequencing (NGS) enables the identification of genomic variants
in cancer patients with high sensitivity at relatively low costs, and has thus opened the era to …

Site‐directed genotype screening for elimination of antinutritional saponins in quinoa seeds identifies TSARL1 as a master controller of saponin biosynthesis …

MDL Trinh, D Visintainer, J Günther… - Plant Biotechnology …, 2024 - Wiley Online Library
Climate change may result in a drier climate and increased salinization, threatening
agricultural productivity worldwide. Quinoa (Chenopodium quinoa) produces highly …

ILIAD: a suite of automated Snakemake workflows for processing genomic data for downstream applications

N Herrick, S Walsh - BMC bioinformatics, 2023 - Springer
Background Processing raw genomic data for downstream applications such as imputation,
association studies, and modeling requires numerous third-party bioinformatics software …

Exploring the effect of high-energy heavy ion beam on Rice genome: transposon activation

X Wen, J Li, F Yang, X Zhang, Y Li - Genes, 2023 - mdpi.com
High-energy heavy ion beams are a new type of physical mutagen that can produce a wide
range of phenotypic variations. In order to understand the mechanism of high-energy heavy …