Here, we present the R package, minSNPs. This is a re-development of a previously described Java application named Minimum SNPs. MinSNPs assembles resolution-optimised sets of single nucleotide polymorphisms (SNPs) from sequence alignments such as genome-wide orthologous SNP matrices. MinSNPs can derive sets of SNPs optimised for discriminating any user-defined combination of sequences from all others. Alternatively, SNP sets may be optimised to determine all sequences from all other sequences, , to maximise diversity. MinSNPs encompasses functions that facilitate rapid and flexible SNP mining, and clear and comprehensive presentation of the results. The minSNPs' running time scales in a linear fashion with input data volume and the numbers of SNPs and SNPs sets specified in the output. MinSNPs was tested using a previously reported orthologous SNP matrix of and an orthologous SNP matrix of 3,279 genomes with 164,335 SNPs assembled from four short read genomic data sets. MinSNPs was shown to be effective for deriving discriminatory SNP sets for potential surveillance targets and in identifying SNP sets optimised to discriminate isolates from different clonal complexes. MinSNPs was also tested with a large orthologous SNP matrix. A set of five SNPs was derived that reliably indicated the country of origin within three south-east Asian countries. In summary, we report the capacity to assemble comprehensive SNP matrices that effectively capture microbial genomic diversity, and to rapidly and flexibly mine these entities for optimised marker sets.
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http://dx.doi.org/10.7717/peerj.15339 | DOI Listing |
Arch Pathol Lab Med
December 2024
From the Departments of Pathology, University of Michigan Medical School, Ann Arbor (Plotzke, Manthei, Fullen, Chan, Bresler, Xiao, Andea, Harms).
Context.—: Patients with melanoma can develop second tumors representing either metastases or new primary melanoma. This distinction has profound implications for management.
View Article and Find Full Text PDFForensic Sci Int
December 2024
Department of Legal Medicine, Asahikawa Medical University, Asahikawa, Japan.
We developed a novel next-generation sequencing-based single-nucleotide polymorphism (SNP) genotyping method for second- and third-degree kinship analysis, and designed 1144- and 2045-SNP panels using one (Set A) and two sets (Sets A and B) of primers. These SNP loci were analyzed in 120 Japanese individuals, and likelihood ratios (LRs) for kinship discrimination were calculated to evaluate the effect of number of SNP loci in simulated analysis. Likelihood evaluation was performed using DNA profiles from two individuals, namely, the unknown and one reference relative.
View Article and Find Full Text PDFAnal Chem
December 2024
Key Laboratory of Luminescence Analysis and Molecular Sensing (Southwest University), Ministry of Education, Institute of Developmental Biology and Regenerative Medicine, College of Chemistry and Chemical Engineering, Southwest University, Chongqing 400715, P. R. China.
Single nucleotide polymorphism (SNP) primarily refers to DNA sequence polymorphism caused by variations in a single nucleotide, which is closely associated with many diseases such as genetic disorders and tumors. However, trace DNA mutants typically exist in a large pool of wild-type DNA, making it challenging to establish accurate and sensitive approaches for SNP detection. Herein, we developed an advanced ligase chain reaction (LCR) strategy to output the circular DNA walker for signal amplification, which realized accuracy and sensitive SNP detection based on the electrochemiluminescent (ECL) platform.
View Article and Find Full Text PDFMigratory species typically undertake demanding long-distance journeys, across different habitat types during which they are exposed to multiple natural and anthropogenic stressors. Mortality during migration is typically high and may be human induced. Understanding individual responses to these selection pressures is rarely attempted because of the challenges of relating individual phenotypic and genetic data to migration success.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
School of Biological Sciences, Faculty of Biology Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester M13 9PT, UK.
Psoriasis (Ps) is a debilitating immune-mediated chronic skin condition. It affects about 1-3% of the world population, with an 8-11% prevalence in Northern European populations. Tyrosine kinase 2 (TYK2) is a newly identified target for Ps.
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