Human pangenomics: promises and challenges of a distributed genomic reference

P Abondio, E Cilli, D Luiselli - Life, 2023 - mdpi.com
A pangenome is a collection of the common and unique genomes that are present in a given
species. It combines the genetic information of all the genomes sampled, resulting in a large …

Generic platform for the multiplexed targeted electrochemical detection of osteoporosis-associated single nucleotide polymorphisms using recombinase polymerase …

M Ortiz, M Jauset-Rubio, O Trummer, I Foessl… - ACS Central …, 2023 - ACS Publications
Osteoporosis is a multifactorial disease influenced by genetic and environmental factors,
which contributes to an increased risk of bone fracture, but early diagnosis of this disease …

Agrigenomic Diversity Unleashed: Current Single Nucleotide Polymorphism Genotyping Methods for the Agricultural Sciences

RD Lawrie, SE Massey - Applied Biosciences, 2023 - mdpi.com
Single Nucleotide Polymorphisms (SNPs) are variations that occur at single nucleotides in
the genome and are present at an appreciable level in a population. SNPs can be linked to …

Rare copy number variation in posttraumatic stress disorder

AX Maihofer, W Engchuan, G Huguet, M Klein… - Molecular …, 2022 - nature.com
Posttraumatic stress disorder (PTSD) is a heritable (h 2= 24–71%) psychiatric illness. Copy
number variation (CNV) is a form of rare genetic variation that has been implicated in the …

Potential association of cytochrome P450 copy number alteration in tumour with chemotherapy resistance in lung adenocarcinoma patients

E Incze, K Mangó, F Fekete, ÁF Kiss, Á Póti… - International Journal of …, 2023 - mdpi.com
Resistance to anticancer agents is a major obstacle to efficacious tumour therapy and
responsible for high cancer-related mortality rates. Some resistance mechanisms are …

Integrated analysis of tumor mutation burden and immune infiltrates in hepatocellular carcinoma

Y Zhao, T Huang, P Huang - Diagnostics, 2022 - mdpi.com
Tumor mutation burdens (TMBs) act as an indicator of immunotherapeutic responsiveness in
various tumors. However, the relationship between TMBs and immune cell infiltrates in …

Development of a next generation SNP genotyping array for wheat

AJ Burridge, M Winfield… - Plant Biotechnology …, 2024 - Wiley Online Library
High‐throughput genotyping arrays have provided a cost‐effective, reliable and
interoperable system for genotyping hexaploid wheat and its relatives. Existing, highly cited …

Genome-wide association study between copy number variation and feeding behavior, feed efficiency, and growth traits in Nellore cattle

LF Benfica, LF Brito, RD do Bem, HA Mulim, J Glessner… - BMC genomics, 2024 - Springer
Background Feeding costs represent the largest expenditures in beef production. Therefore,
the animal efficiency in converting feed in high-quality protein for human consumption plays …

Asthma—Genomic Advances Toward Risk Prediction

E Herrera-Luis, M Martin-Almeida… - Clinics in Chest …, 2024 - chestmed.theclinics.com
Technological advances have accelerated discoveries in human genetics, including risk
variant identification, genetic risk prediction, and functional assessment of genetic variation …

Cytogenomic epileptology

IY Iourov, AP Gerasimov, MA Zelenova… - Molecular …, 2023 - Springer
Molecular cytogenetic and cytogenomic studies have made a contribution to genetics of
epilepsy. However, current genomic research of this devastative condition is generally …