Single nucleotide polymorphisms (SNPs) play a fundamental role in human genetic variation and are used in medical diagnostics, phylogeny construction, and drug design. They provide the highest-resolution genetic fingerprint for identifying disease associations and human features. Haplotypes are regions of linked genetic variants that are closely spaced on the genome and tend to be inherited together. Genetics research has revealed SNPs within certain haplotype blocks that introduce few distinct common haplotypes into most of the population. Haplotype block structures are used in association-based methods to map disease genes. In this paper, we propose an efficient algorithm for identifying haplotype blocks in the genome. In chromosomal haplotype data retrieved from the HapMap project website, the proposed algorithm identified longer haplotype blocks than an existing algorithm. To enhance its performance, we extended the proposed algorithm into a parallel algorithm that copies data in parallel via the Hadoop MapReduce framework. The proposed MapReduce-paralleled combinatorial algorithm performed well on real-world data obtained from the HapMap dataset; the improvement in computational efficiency was proportional to the number of processors used.
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http://dx.doi.org/10.3390/ijms16011096 | DOI Listing |
Poult Sci
January 2025
Institute of Biological Bases of Animal Production, University of Life Sciences in Lublin, 13 Akademicka St., 20-950 Lublin, Poland.
The aim of the study was to identify polymorphisms in the ovalbumin gene - SERPINB14 gene and evaluate their effect on hatchability traits and egg quality changes during storage in two strains of Japanese quails: meat-type (F33) and laying-type (S22). To individually determine hatchability traits for each female, eggs were collected and incubated. To determine egg quality traits, 10 eggs were collected from each female and stored for 14 weeks.
View Article and Find Full Text PDFMol Ecol Resour
January 2025
United States Department of Agriculture, Wildlife Services, National Wildlife Research Center, Fort Collins, Colorado, USA.
While a best practice for evaluating the behaviour of genetic clustering algorithms on empirical data is to conduct parallel analyses on simulated data, these types of simulation techniques often involve sampling genetic data with replacement. In this paper we demonstrate that sampling with replacement, especially with large marker sets, inflates the perceived statistical power to correctly assign individuals (or the alleles that they carry) back to source populations-a phenomenon we refer to as resampling-induced, spurious power inflation (RISPI). To address this issue, we present gscramble, a simulation approach in R for creating biologically informed individual genotypes from empirical data that: (1) samples alleles from populations without replacement and (2) segregates alleles based on species-specific recombination rates.
View Article and Find Full Text PDFPlants (Basel)
December 2024
Department of Crop Science, College of Agriculture and Life Sciences, Chungnam National University, Daejeon 34134, Republic of Korea.
(Kauffman and Gerdemann) is an oomycete pathogen that threatens soybean ( L.) production worldwide. The development of soybean cultivars with resistance to this pathogen is of paramount importance for the sustainable management of the disease.
View Article and Find Full Text PDFbioRxiv
December 2024
Gilbert S Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Somatic mutations in individual cells lead to genomic mosaicism, contributing to the intricate regulatory landscape of genetic disorders and cancers. To evaluate and refine the detection of somatic mosaicism across different technologies with personalized donor-specific assembly (DSA), we obtained tissue from the dorsolateral prefrontal cortex (DLPFC) of a post-mortem neurotypical 31-year-old individual. We sequenced bulk DLPFC tissue using Oxford Nanopore Technologies (~60X), NovaSeq (~30X), and linked-read sequencing (~28X).
View Article and Find Full Text PDFTheor Appl Genet
December 2024
Key Laboratory of Germplasm Enhancement, Physiology and Ecology of Food Crops in Cold Region, Ministry of Education, Northeast Agricultural University, Harbin, 150030, China.
Integrated genome-wide association study and linkage mapping revealed genetic basis of alkalinity tolerance during rice germination. The key gene OsWRKY49 was further verified in transgenic plants. With the widespread use of the rice direct seeding cultivation model, improving the tolerance of rice varieties to salinity-alkalinity at the germination stage has become increasingly important.
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