Russian Journal of Genetics最新文献

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The Complete Mitochondrial Genome of Macrocystis pyrifera (Linnaeus) C. Agardh 1820 and Phylogenetic Analysis 大囊藻(林尼厄斯)C. Agardh 1820 的完整线粒体基因组和系统发育分析
IF 0.6 4区 生物学
Russian Journal of Genetics Pub Date : 2024-08-23 DOI: 10.1134/s1022795424700625
S. X. Liang, Y. Y. He, C. F. Qu, F. Y. Wang, J. L. Miao
{"title":"The Complete Mitochondrial Genome of Macrocystis pyrifera (Linnaeus) C. Agardh 1820 and Phylogenetic Analysis","authors":"S. X. Liang, Y. Y. He, C. F. Qu, F. Y. Wang, J. L. Miao","doi":"10.1134/s1022795424700625","DOIUrl":"https://doi.org/10.1134/s1022795424700625","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p><i>Macrocystis pyrifera</i> (Linnaeus) C. Agardh 1820 is a type of algae widely located along the Chilean coastline with extensive biological value. Mitochondrial genome is 37 289 bp in length and consists of a circular DNA molecule. The circular genome is composed of 66 genes, including 38 protein coding genes, 25 tRNA genes, and 3 rRNA genes. The total content of G+C is 31.80%, lower than that of A+T. <i>M. pyrifera</i> formed a monophyletic clade together with <i>Macrocystis integrifolia</i>, which offer valuable insights into the phylogeny and gene functions within the family Laminariaceae andpromote novel references for the genetic and phylogenetic research of <i>M. pyrifera</i> through the provision of these data.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"1 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142209095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analysis of the Genetic Structures of 29 Horse Breeds of Russian Selection by STR Markers 通过 STR 标记分析俄罗斯 29 个马品种的遗传结构
IF 0.6 4区 生物学
Russian Journal of Genetics Pub Date : 2024-08-23 DOI: 10.1134/s1022795424700510
N. V. Blohina, L. A. Khrabrova
{"title":"Analysis of the Genetic Structures of 29 Horse Breeds of Russian Selection by STR Markers","authors":"N. V. Blohina, L. A. Khrabrova","doi":"10.1134/s1022795424700510","DOIUrl":"https://doi.org/10.1134/s1022795424700510","url":null,"abstract":"<p><b>Abstract</b>—The current stage of genetic certification of horses of cultural and local breeds based on microsatellite analysis makes it possible to quite effectively carry out identification and genetic examination of the origin of breeding animals, as well as solve the problem of assessing and preserving genetic resources. With a reduction in the number of breeding stock to 200–300 mares observed in a number of breeds, the threat of a decrease in the genetic diversity of populations and the accumulation of genetic load increases, which necessitates the need to study and monitor the genetic structure of horse breeds. In this regard, our comparative genetic analysis of polymorphism of 17 microsatellite loci in 20 541 horses of 29 cultural and local breeds allows us to certify the basic part of the genetic resources of the horse breeding of the Russian Federation. including riding, trotter, draft, and local breeds. During the genetic population analysis of the studied breeds, basic parameters were assessed: the total number of allele variants (<i>N</i><sub>a</sub>), the effective number of alleles (<i>A</i><sub>e</sub>), the average number of alleles per locus (<i>MNA</i>), the level of observed (<i>H</i><sub>o</sub>) and expected heterozygosity (<i>H</i><sub>e</sub>), as well as the coefficient of intrapopulation inbreeding <i>F</i><sub>is</sub>. Phylogenetic relationships of breeds were assessed using the R and R Studio software packages. Among horse breeds of different specializations, the highest values of all indicators of genetic diversity (<i>A</i><sub>e</sub><i>, H</i><sub>o</sub><i>, H</i><sub>e</sub>, and <i>N</i><sub>a</sub>) were determined in aboriginal populations. In the allele pool of local horse breeds, there were rare alleles <i>ASB2T</i>, <i>HMS7S</i>, <i>HMS6J</i>, <i>HMS6H</i>, <i>HMS2T</i>, <i>HMS1O</i>, <i>HTG7L</i>, <i>HTG6L</i>, <i>HTG6H</i>, <i>VHL20S</i>, <i>ASB17Z</i>, <i>ASB17X</i>, <i>ASB17U</i>, <i>LEX3S</i>, <i>LEX3R,</i> and <i>CA425E</i>, which were absent in horses of stud breeds. Among the riding horse breeds created in Russia, the Budennovskaya, Donskaya, and Kabardian horse breeds stood out due to the presence of rare alleles. Alleles <i>ASB2G</i>, <i>ASB2F</i>, <i>HMS2F</i>, <i>HTG7Q,</i> and <i>ASB23O</i> were found in trotter horses, which were not identified in the genetic structure of other breeds. The phylogenetic analysis showed the division of horse breeds into two clear subclusters, the first of which included only stud breeds. The second cluster united all the native breeds, as well as the Orlov Trotter and a group of draft breeds, which were used for many years as improvers of the local horse population. The analysis of the genetic structure of domestic horse breeds revealed a fairly high reserve of diversity even in small populations, which is an indispensable condition for successful selection in horse breeding.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142209047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Delineating Genetic Variability: Comparative Analysis of Yak MHC-DQB Gene through cDNA Cloning 划定遗传变异:通过 cDNA 克隆对牦牛 MHC-DQB 基因进行比较分析
IF 0.6 4区 生物学
Russian Journal of Genetics Pub Date : 2024-08-23 DOI: 10.1134/s1022795424700546
B. Wang, S. Memon, M. F. Li, Z. D. Gao, Y. Lu, J. Y. Hong, J. Wu, D. M. Xi, Y. Q. Chong
{"title":"Delineating Genetic Variability: Comparative Analysis of Yak MHC-DQB Gene through cDNA Cloning","authors":"B. Wang, S. Memon, M. F. Li, Z. D. Gao, Y. Lu, J. Y. Hong, J. Wu, D. M. Xi, Y. Q. Chong","doi":"10.1134/s1022795424700546","DOIUrl":"https://doi.org/10.1134/s1022795424700546","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Nested within the vast genetic landscape of the major histocompatibility complex (MHC), a cluster of genes assumes a pivotal role in pathogen recognition and orchestrating mechanisms for disease resistance. This investigation successfully cloned and sequenced the complete 786 bp cDNA entity corresponding to the MHC-DQB gene in yaks. A comprehensive analysis of the sequence unveiled distinct features, including highly conserved peptide binding sites (PBS) spanning 8 amino acids and specific nucleotide-binding regions at designated positions (–1, –28, 2, 3, 29, 64, 93, and 108). The pronounced uniformity and remarkable preservation demonstrated by the yak MHC-DQB gene underscore its potential in providing protection against pathogens and the inherent stability within the DQB genetic framework. Moreover, a comparison across six distinct domains of the Yak-DQB gene revealed notable similarities with closely related species. Particularly significant is the identification of a conserved peptide-binding region consisting of 16 amino acids, alongside the detection of multiple conserved nucleotide-binding regions. When conducting a comparative analysis of amino acid lengths in the Yak-DQB orthologous sequence, a substantial homology with cattle was observed, registering at 91.2%. Interestingly, however, the DQB gene in yaks exhibited discrepancies in 23 amino acids compared to the bovine sequence. Specifically, a detailed examination revealed that 15 of these variable amino acids were clustered within the Beta 1 (в1) domain. These insights provide valuable information about the distinct characteristics of the MHC gene in both ruminant and non-ruminant species, unraveling the complexities of their comparative molecular genetics.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"47 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142209088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Molecular Genetic Characteristics of the Mutant Strain B-162/2 of the Bacteria Pseudomonas chlororaphis subsp. aurantiaca 绿假单胞菌亚种 B-162/2 突变菌株的分子遗传特征
IF 0.6 4区 生物学
Russian Journal of Genetics Pub Date : 2024-08-23 DOI: 10.1134/s1022795424700480
K. S. Bondarava, A. I. Liaudanskaya, N. P. Maximova, K. G. Verameyenka
{"title":"The Molecular Genetic Characteristics of the Mutant Strain B-162/2 of the Bacteria Pseudomonas chlororaphis subsp. aurantiaca","authors":"K. S. Bondarava, A. I. Liaudanskaya, N. P. Maximova, K. G. Verameyenka","doi":"10.1134/s1022795424700480","DOIUrl":"https://doi.org/10.1134/s1022795424700480","url":null,"abstract":"<p><b>Abstract</b>—The production of microorganisms that produce biologically active compounds for agriculture and the chemical, veterinary, and pharmaceutical industries, as well as for environmental protection, continues to be an important direction of microbial biotechnology. One of the most effective approaches to the production of producers is chemical mutagenesis, which, in combination with the correct breeding strategy, makes it possible to obtain highly productive strains. A significant disadvantage of chemical mutagenesis is the large number of induced mutations in the genomes of mutant strains, which makes it difficult to identify genes and, accordingly, biosynthetic pathways involved in the production of a given compound. The solution to this problem is modern technologies of genome sequencing and analysis, which make it possible to identify new genes and unknown biochemical pathways involved in the formation of biologically active compounds. The aim of the work was to analyze the genome of the mutant strain B-162/2 of the bacterium <i>Pseudomonas chlororaphis</i> subsp. <i>aurantiaca</i>, which is capable of increased production of biologically active compounds of the phenazine series and is resistant to hydrogen peroxide. When analyzing the genome of strain B-162/2 in full size, 6482 coding sequences and 64 coding RNA sequences were identified. Comparison of the genome of the B-162/2 strain with the genome of the wild type B-162 allowed the identification of 39 mutations, five of which are located in intergenic regions, and 34 affected coding sequences. Of the mutations detected, 14 led to a radical amino acid substitution in the proteins and two led to the formation of premature stop codons (methyl group sensor and MFS-type transporter). Several substitutions with high values of the Grantham coefficient were found, which could possibly lead to a change in the activity of the proteins. Three regions with phage genes in the genome of the B-162/2 strain were detected.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"7 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142209043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sequencing and Annotation of the Chloroplast Genome of Triticum militinae—A “Natural Mutant” of Tetraploid Wheat Triticum timopheevii Zhuk. Triticum militinae--四倍体小麦 Triticum timopheevii Zhuk 的 "天然突变体"--叶绿体基因组的测序和注释
IF 0.6 4区 生物学
Russian Journal of Genetics Pub Date : 2024-08-23 DOI: 10.1134/s1022795424700601
A. R. Kuluev, R. T. Matniyazov, B. R. Kuluev, L. Yu. Privalov, A. V. Chemeris
{"title":"Sequencing and Annotation of the Chloroplast Genome of Triticum militinae—A “Natural Mutant” of Tetraploid Wheat Triticum timopheevii Zhuk.","authors":"A. R. Kuluev, R. T. Matniyazov, B. R. Kuluev, L. Yu. Privalov, A. V. Chemeris","doi":"10.1134/s1022795424700601","DOIUrl":"https://doi.org/10.1134/s1022795424700601","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">\u0000<b>Abstract</b>—</h3><p><i>Triticum</i> <i>militinae</i> Zhuk. et Migusch., a tetraploid wheat with the GAA genome, is considered a natural naked mutant of <i>Triticum timopheevii</i> Zhuk. Previously, the karyotype and crossing characteristics of this wheat were examined. To clarify the origin and relationships of <i>T. militinae</i> with other representatives of the wheat family, analysis of its chloroplast genome, which remained unexplored, is of great interest. In the present study, for the first time, sequencing and annotation of the complete chloroplast genome of <i>T. militinae</i>, the size of which was found to be 135 898 bp, was conducted. The plastome of this wheat is composed of two inverted repeats, each of 21 552 bp in length, the small single-copy (SSC) region of 12 791 bp, and the large single-copy (LSC) region of 80 003 bp. The chloroplast genome of <i>T. militinae</i> contains 132 annotated structural genes, of which 85 genes are protein-coding, 31 are tRNA genes, and four genes code for rRNA.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"58 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142209094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Polymorphism of Russian Populations of Rhopalosiphum padi L. Based on DNA Markers 基于 DNA 标记的俄罗斯 Rhopalosiphum padi L. 种群的多态性
IF 0.6 4区 生物学
Russian Journal of Genetics Pub Date : 2024-08-23 DOI: 10.1134/s1022795424700522
E. E. Radchenko, I. N. Anisimova, N. V. Alpatieva
{"title":"Polymorphism of Russian Populations of Rhopalosiphum padi L. Based on DNA Markers","authors":"E. E. Radchenko, I. N. Anisimova, N. V. Alpatieva","doi":"10.1134/s1022795424700522","DOIUrl":"https://doi.org/10.1134/s1022795424700522","url":null,"abstract":"<p><b>Abstract</b>—Using the next-generation sequencing (NGS) technology, the nucleotide polymorphism in a fragment of the <i>ND4</i> gene encoding NADH dehydrogenase subunit 4 was studied in 14 samples from three populations of the bird cherry-oat aphid (<i>Rhopalosiphum padi</i> L.) and the range of nucleotide polymorphism was determined. The insects were collected in 2021 and 2022 in the Northwest of Russia (in the vicinity of St. Petersburg) and in the northern Caucasus (Krasnodar Territory and Dagestan). Mitochondrial DNA haplotypes were identified, which have 97.95–99.80% sequence identity with the reference GenBank accession number KT447631.1. The level of intraspecific polymorphism of a 438 bp <i>ND4</i> gene fragment in <i>Rh. padi</i> varied from 0.2 to 4.3%. In 2-year experiments, 33 polymorphic sites (17 transitions and 16 transversions) were found in the <i>ND4</i> sequences, which made it possible to identify 30 mitochondrial DNA haplotypes. The <i>Rh. padi</i> populations collected simultaneously on different host plants or at different times on bird cherry (spring) and cereals (summer) differed in the proportion of the main haplotype, as well as in the composition of unique minor haplotypes. Analysis of the ratio of mitochondrial DNA haplotypes suggests the important role of the host plant genotype in the formation of the structure of <i>Rh. padi</i> populations.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"7 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142209086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Polymorphism of Antioxidant Genes and Overweight in Children 抗氧化基因的多态性与儿童超重
IF 0.6 4区 生物学
Russian Journal of Genetics Pub Date : 2024-07-27 DOI: 10.1134/s102279542470039x
M. A. Shkurat, E. V. Mashkina, N. P. Milyutina, E. D. Teplyakova, T. P. Shkurat
{"title":"Polymorphism of Antioxidant Genes and Overweight in Children","authors":"M. A. Shkurat, E. V. Mashkina, N. P. Milyutina, E. D. Teplyakova, T. P. Shkurat","doi":"10.1134/s102279542470039x","DOIUrl":"https://doi.org/10.1134/s102279542470039x","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">\u0000<b>Abstract</b>—</h3><p>Oxidative stress is one of the components of the pathological process leading to the development of obesity. The level of formation of free radical products is controlled by the antioxidant system. Antioxidant gene polymorphism influences the level and/or activity of the encoded enzymes. The purpose of this work was to investigate the association of SNP in the genes of the antioxidant system with the risk of overweight in children and adolescents. The material for the study were DNA samples from 279 overweight children and 131 children from the control group. Genotyping was performed for rs6721961 (<i>–617G&gt;T</i>) <i>NFE2L2</i>, rs4998557 (<i>7958G&gt;A</i>) <i>SOD1</i>, rs4880 (<i>47C&gt;T Ala16Val</i>) <i>SOD2</i>, rs1001179 (<i>–262C&gt;T</i>) <i>CAT</i>, rs713041 (<i>718C&gt;T</i>) <i>GPX4</i>, rs662 (<i>Gln192Arg</i>) <i>PON1</i>. It has been shown that the –<i>617GT</i> genotype (rs6721961) <i>NFE2L2</i> is associated with a decreased risk of overweight in children. An increased risk of developing overweight was detected for heterozygotes –<i>262CT</i> for rs1001179 <i>CAT</i> and the –<i>262T</i> allele. As a result of the analysis of intergenic interactions, a 6-locus genotype was identified that is associated with a reduced risk of overweight.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"1 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141773859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Karyotype and Molecular Genetic Differentiation of a 24-Chromosomal Form of the Gray Hamster Nothocricetulus migratorius from the Tien Shan 天山灰仓鼠 Nothocricetulus migratorius 24 染色体形式的核型和分子遗传分化
IF 0.6 4区 生物学
Russian Journal of Genetics Pub Date : 2024-07-27 DOI: 10.1134/s1022795424700431
O. V. Brandler, A. V. Blekhman
{"title":"Karyotype and Molecular Genetic Differentiation of a 24-Chromosomal Form of the Gray Hamster Nothocricetulus migratorius from the Tien Shan","authors":"O. V. Brandler, A. V. Blekhman","doi":"10.1134/s1022795424700431","DOIUrl":"https://doi.org/10.1134/s1022795424700431","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">\u0000<b>Abstract</b>—</h3><p>The widespread Palearctic rodent species gray hamster <i>Nothocricetulus migratorius</i> has a karyotype with a stable number of chromosomes 2<i>n</i> = 22 throughout the entire range of its habitat. We found gray hamsters with diploid number of chromosomes 2<i>n</i> = 24 locally distributed in the Qurama Ridge of the Tian Shan. A new karyotype and analysis of G- and NORs-bands of differentially stained chromosome sets were described for the first time. The described karyotype differs from the 22-chromosomal karyotype of gray hamsters by the Y-chromosome morphology and the presence of an additional pair of heteromorphic small chromosomes. Molecular genetic analysis revealed genetic divergence of 24- and 22-chromosomal forms of <i>N. migratorius</i>, and the differences between them in mitochondrial markers are comparable and in terms of nuclear markers exceed the differences between <i>C. barabensis</i> (2<i>n</i> = 20) and <i>C. psevdogriseus</i> (2<i>n</i> = 24). The data obtained give grounds to discuss the taxonomic status of the 24-chromosomal form of gray hamsters from the Qurama Ridge and consider the differentiation of <i>N. migratorius</i> karyomorphs as a stage of chromosomal speciation.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"33 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141774137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reconstruction of a Matrix of Genotypic Correlations between Variants within a Gene for Joint Analysis of Imputed and Sequenced Data 重构基因内变异基因型相关性矩阵,联合分析推算数据和测序数据
IF 0.6 4区 生物学
Russian Journal of Genetics Pub Date : 2024-07-27 DOI: 10.1134/s1022795424700418
G. R. Svishcheva, A. V. Kirichenko, N. M. Belonogova, E. E. Elgaeva, Ya. A. Tsepilov, I. V. Zorkoltseva, T. I. Axenovich
{"title":"Reconstruction of a Matrix of Genotypic Correlations between Variants within a Gene for Joint Analysis of Imputed and Sequenced Data","authors":"G. R. Svishcheva, A. V. Kirichenko, N. M. Belonogova, E. E. Elgaeva, Ya. A. Tsepilov, I. V. Zorkoltseva, T. I. Axenovich","doi":"10.1134/s1022795424700418","DOIUrl":"https://doi.org/10.1134/s1022795424700418","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">\u0000<b>Abstract</b>—</h3><p>When combining imputed and sequenced data in a single gene-based association analysis, the problem of reconstructing genetic correlation matrices arises. It is related to the fact that the correlations between genotypes of all imputed variants and the correlations between genotypes of all sequenced variants are known for a gene but we do not know the correlations between genotypes of variants, one of which is imputed, and the other is sequenced. To recover these correlations, we propose an efficient method based on maximising the determinant of the matrix. This method has a number of useful properties and an analytical solution for our task. Approbation of the proposed method was performed by comparing reconstructed and real correlation matrices constructed on individual genotypes from the UK Biobank. Comparison of the results of gene-based association analysis performed by the SKAT, BT, and PCA methods on reconstructed and real matrices using modelled summary statistics and calculated summary statistics on real phenotypes showed high quality of reconstruction and robustness of the method to different gene structures.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"17 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141773860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Artificial Intelligence and Classical Methods in Animal Genetics and Breeding 动物遗传学和育种中的人工智能与经典方法
IF 0.6 4区 生物学
Russian Journal of Genetics Pub Date : 2024-07-27 DOI: 10.1134/s1022795424700297
A. D. Soloshenkov, E. A. Soloshenkova, M. T. Semina, N. N. Spasskaya, V. N. Voronkova, Y. A. Stolpovky
{"title":"Artificial Intelligence and Classical Methods in Animal Genetics and Breeding","authors":"A. D. Soloshenkov, E. A. Soloshenkova, M. T. Semina, N. N. Spasskaya, V. N. Voronkova, Y. A. Stolpovky","doi":"10.1134/s1022795424700297","DOIUrl":"https://doi.org/10.1134/s1022795424700297","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">\u0000<b>Abstract</b>—</h3><p>Basic methods of population genetics and animal breeding and mathematical methods of machine learning used in animal breeding are analyzed. CatBoost library models were trained on the example of two domesticated species—horse (<i>Equus caballus</i>) and reindeer (<i>Rangifer tarandus</i>). Data from microsatellite panels of loci 16 and 17, respectively, were used to train the model using data on domesticated and wild reindeer, European and Russian horse breeds. The standard indicators (Accuracy, Precision, Recall, and <i>F1</i>) were calculated, and confusion matrices were constructed to assess the success of the model. New possibilities for identifying animal breed affiliation are shown.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"15 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141774058","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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