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Chromosome variation
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Since different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal microarray analysis (CMA) as a first-line genetic diagnostic test.
23p
vibransone
28-03-2024
1
1
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The aim of this study was to examine the diagnostic yield of microarray testing and the functional impact of genome-wide rare CNVs in a community ascertained cohort of adults with schizophrenia and low (< 85) or average (≥ 85) IQ.
13p
vioraclene
31-03-2024
3
1
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Allele-specific expression (ASE) is differential expression of each of the two chromosomal alleles of an autosomal gene. We assessed ASE patterns in the human left atrium (LA, n = 62) and paired samples from the left ventricle (LV, n = 76) before and after ischemia, and tested the utility of differential ASE to identify genes associated with postoperative atrial fibrillation (poAF) and myocardial ischemia.
11p
vioraclene
31-03-2024
3
2
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The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygotic mutational event, previously reported to be seen once in every 12,000 individuals referred for genome-wide chromosomal microarray analysis due to congenital abnormalities.
21p
viellison
28-03-2024
3
2
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African ancestry is a significant risk factor for advanced prostate cancer (PCa). Mortality rates in subSaharan Africa are 2.5-fold greater than global averages. However, the region has largely been excluded from the benefits of whole genome interrogation studies. Additionally, while structural variation (SV) is highly prevalent, PCa genomic studies are still biased towards small variant interrogation
14p
viellison
28-03-2024
6
2
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Part 1 book "The genetics of the pig" includes content: Systematics and evolution of the pig, genetic aspects of pig domestication, molecular genetics of coat colour variation, genetics of morphological traits and inherited disorders, molecular genetics, immunogenetics, cytogenetics and chromosome maps, pig genomics, behaviour genetics of the domestic pig, biology and genetics of reproduction.
251p
muasambanhan05
22-01-2024
6
2
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Part 1 book "Genetics in medicine" includes content: Introduction, introduction to the human genome, the human genome, human genetic diversity - mutation and polymorphism, principles of clinical cytogenetics and genome analysis, the chromosomal and genomic basis of disease - disorders of the autosomes and sex chromosomes, patterns of single gene inheritance, complex inheritance of common multifactorial disorders, genetic variation in populations, identifying the genetic basis for human disease.
197p
oursky09
08-11-2023
7
3
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Part 1 book "The genetics of cattle" includes content: Systematics and phylogeny of cattle, genetic aspects of domestication, breeds of cattle, molecular genetics of coat colour variation, genetics of morphological traits and inherited disorders, cytogenetics and chromosome maps, bovine genomics, bovine immunogenetics, genetics of disease resistance,... and other contents.
328p
oursky05
20-09-2023
6
2
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Part 1 book "Medical genetics " includes contents: Background and history; basic cell biology - Structure and function of genes and chromosomes, genetic variation - Its origin and detection, autosomal dominant and recessive inheritance, sex linked and nontraditional modes of inheritance, clinical cytogenetics - The chromosomal basis of human disease; biochemical genetics - Disorders of metabolism.
163p
oursky01
17-07-2023
3
2
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Spotted wilt, caused by tomato spotted wilt virus (TSWV), has been one of major diseases in cultivated peanut grown in the southeastern United States (US) since 1990. Previously a major quantitative trait locus (QTL) controlling spotted wilt disease resistance was mapped to an interval of 2.55 cM genetic distance corresponding to a physical distance of 14.4 Mb on chromosome A01 of peanut by using a segregating F2 population.
12p
vinarcissa
21-03-2023
1
1
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Previous studies in the Norwegian pig breeds Landrace and Duroc have revealed a QTL for levels of skatole located in the region 74.7–80.5 Mb on SSC7. Skatole is one of the main components causing boar taint, which gives an undesirable smell and taste to the pig meat when heated.
9p
vinarcissa
21-03-2023
4
1
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The significant social and economic loss as a result of bovine tuberculosis (bTB) presents a continuous challenge to cattle industries in the UK and worldwide. However, host genetic variation in cattle susceptibility to bTB provides an opportunity to select for resistant animals and further understand the genetic mechanisms underlying disease dynamics.
10p
vinarcissa
21-03-2023
3
1
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High-resolution mapping of the loci (QTN) responsible for genetic variation in quantitative traits is essential for positional cloning of candidate genes, and for effective marker assisted selection. The confidence interval (QTL) flanking the point estimate of QTN-location is proportional to the number of individuals in the mapping population carrying chromosomes recombinant in the given interval.
16p
vinarcissa
21-03-2023
2
1
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Much of the data resolution of the haploid non-recombining Y chromosome (NRY) haplogroup O in East Asia are still rudimentary and could be an explanatory factor for current debates on the settlement history of Island Southeast Asia (ISEA). Here, 81 slowly evolving markers (mostly SNPs) and 17 Y-chromosomal short tandem repeats were used to achieve higher level molecular resolution.
23p
vinarcissa
21-03-2023
6
1
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Acipenseriformes is a basal lineage of ray-finned fishes and comprise 27 extant species of sturgeons and paddlefishes. They are characterized by several specific genomic features as broad ploidy variation, high chromosome numbers, presence of numerous microchromosomes and propensity to interspecific hybridization.
12p
vinarcissa
21-03-2023
2
1
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Monozygotic twins (MZT) are an important resource for genetical studies in the context of normal and diseased genomes. In the present study we used DYZ1, a satellite fraction present in the form of tandem arrays on the long arm of the human Y chromosome, as a tool to uncover sequence variations between the monozygotic males.
12p
vinarcissa
21-03-2023
2
1
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Fish may display variations in ploidy, including three sets of chromosomes, known as triploidy. A recent study revealed a frequency of ~ 2% spontaneous (i.e., non-intentional) triploidy in domesticated Atlantic salmon produced in Norwegian aquaculture in the period 2007–2014.
9p
vihagrid
30-01-2023
10
3
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Gene expression is potentially an important heritable quantitative trait that mediates between genetic variation and higher-level complex phenotypes through time and condition-dependent regulatory interactions.
13p
vihagrid
30-01-2023
5
3
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Numerous genome-wide association studies (GWAS) conducted to date revealed genetic variants associated with various diseases, including breast and prostate cancers. Despite the availability of these large-scale data, relatively few variants have been functionally characterized, mainly because the majority of single-nucleotide polymorphisms (SNPs) map to the non-coding regions of the human genome.
18p
vihagrid
30-01-2023
9
3
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Part 1 of ebook "Selection methods in plant breeding (2nd edition)" provide readers with content about: population genetic effects of cross-fertilization; population genetic effects of inbreeding; assortative mating and disassortative mating; population genetic effect of selection with regard to sex expression; selection with regard to a trait with qualitative variation; random variation of allele frequencies; components of the phenotypic value of traits with quantitative variation;...
234p
hanlinhchi
11-11-2022
10
3
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