The two haploid genome sequences that a person inherits from the two parents represent the most fundamentally useful type of genetic information for the study of heritable diseases and the development of personalized medicine. Because of the difficulty in obtaining long-range phase information, current sequencing methods are unable to provide this information. Here, we introduce and show feasibility of a scalable approach capable of generating genomic sequences completely phased across the entire chromosome.

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BackgroundThe long bone abnormality (lbab) mouse is a new autosomal recessive mutant characterized by overall smaller body size with proportionate dwarfing of all organs and shorter long bones. Previous linkage analysis has located the lbab mutation on chromosome 1 between the markers D1Mit9 and D1Mit488.ResultsA genome-based positional approach was used to identify a mutation associated with lbab disease. A total of 122 genes and expressed sequence tags at the lbab region were screened for possible mutation by using genomic DNA from lbabl/lbab, lbab/+, and +/+ B6 mice and high throughput temperature gradient capillary electrophoresis. A sequence difference was identified in one of the amplicons of gene Nppc between lbab/lbab and +/+ mice. One-step reverse transcriptase polymerase chain reaction was performed to validate the difference of Nppc in different types of mice at the mRNA level. The mutation of Nppc was unique in lbab/lbab mice among multiple mouse inbred strains. The mutation of Nppc is co-segregated with lbab disease in 200 progenies produced from heterozygous lbab/+ parents.ConclusionA single nucleotide mutation of Nppc is associated with dwarfism in lbab/lbab mice. Current genome information and technology allow us to efficiently identify single nucleotide mutations from roughly mapped disease loci. The lbab mouse is a useful model for hereditary human achondroplasia.

There is unique genetic information belonging to various kinds of living beings. Understanding of the formation process of organisms and a variety of vital movement is associated with the achievements of genome study. As horse has a notable health condition and great record of the genealogy in the world, thus it becomes a valuable model animal for studying life science. Despite of a late start, the map of the horse genome has undergone unprecedented expansion during the last few years. The current progresses of the horse genome, including genetic map, physical map, comparative genomic map, and functional genomics, were reviewed in this paper. The maps are currently used worldwide to discover genes associated with various traits of significance in horse including general health, disease resistance, reproduction, fertility, athletic performance, phenotypic characteristics like coat color, etc. The results are believed to provide new ideas and approaches for prevention, diagnostics, and therapeutic for horses, and also better foundation of breed selection and equine genetic breeding.

Phase information of an individual genome provides fundamentally useful genetic information for the understanding of genome function, phenotype, and disease. With the development of new sequencing technology, much interest has been focused on the challenges in obtaining long-range phase information. Here, we present the detailed protocol for a method capable of generating genomic sequences completely phased across the entire chromosome through FACS-mediated chromosome sorting and next generation sequencing, known as Phase-seq.

To develop the utilization of pasture fibers and waste tire rubber powder, the effect of different blending levels of modified pasture fibers (2 kg/m3, 3 kg/m3, and 4 kg/m3) on the loss rate of compressive toughness and softening characteristics of rubber powder concrete was studied. In addition, RapidAir457 system imaging analysis and microscopic electron microscope photo analysis were carried out to analyze the distribution pattern of modified pasture fibers and rubber powder in concrete. The results show that the peak load of concrete is higher than other pasture fiber dosing test groups when 3 kg/m3 is incorporated in 20 mesh and 60 mesh rubber powder. With the increase of pasture fiber content, the compressive toughness loss of MC60 group and MC80 group increased first and then decreased. The softening curve analysis showed that MC-3 was more capable of absorbing damage energy in the strain range of 0.0005–0.0009 than the MC-2 group. According to the RapidAir457 system imaging analysis, the pasture fibers form a web-like organization inside the concrete when the pasture fiber is mixed at 3 kg/m3.