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家猫品种中 SNP 发现的全基因组轻测序。

Light whole genome sequence for SNP discovery across domestic cat breeds.

机构信息

Genome Technology Branch and NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

出版信息

BMC Genomics. 2010 Jun 24;11:406. doi: 10.1186/1471-2164-11-406.

Abstract

BACKGROUND

The domestic cat has offered enormous genomic potential in the veterinary description of over 250 hereditary disease models as well as the occurrence of several deadly feline viruses (feline leukemia virus--FeLV, feline coronavirus--FECV, feline immunodeficiency virus--FIV) that are homologues to human scourges (cancer, SARS, and AIDS respectively). However, to realize this bio-medical potential, a high density single nucleotide polymorphism (SNP) map is required in order to accomplish disease and phenotype association discovery.

DESCRIPTION

To remedy this, we generated 3,178,297 paired fosmid-end Sanger sequence reads from seven cats, and combined these data with the publicly available 2X cat whole genome sequence. All sequence reads were assembled together to form a 3X whole genome assembly allowing the discovery of over three million SNPs. To reduce potential false positive SNPs due to the low coverage assembly, a low upper-limit was placed on sequence coverage and a high lower-limit on the quality of the discrepant bases at a potential variant site. In all domestic cats of different breeds: female Abyssinian, female American shorthair, male Cornish Rex, female European Burmese, female Persian, female Siamese, a male Ragdoll and a female African wildcat were sequenced lightly. We report a total of 964 k common SNPs suitable for a domestic cat SNP genotyping array and an additional 900 k SNPs detected between African wildcat and domestic cats breeds. An empirical sampling of 94 discovered SNPs were tested in the sequenced cats resulting in a SNP validation rate of 99%.

CONCLUSIONS

These data provide a large collection of mapped feline SNPs across the cat genome that will allow for the development of SNP genotyping platforms for mapping feline diseases.

摘要

背景

家猫在兽医领域提供了巨大的基因组潜力,描述了 250 多种遗传性疾病模型,以及几种致命的猫科病毒(猫白血病病毒-FeLV、猫冠状病毒-FECV、猫免疫缺陷病毒-FIV)的发生,这些病毒分别与人类的瘟疫(癌症、SARS 和艾滋病)类似。然而,为了实现这种生物医学潜力,需要高密度的单核苷酸多态性(SNP)图谱,以便完成疾病和表型关联的发现。

描述

为了解决这个问题,我们从 7 只猫中生成了 3178297 对 fosmid 末端 Sanger 序列读数,并将这些数据与公开的 2X 猫全基因组序列相结合。所有的序列读数都被组装在一起,形成了一个 3X 的全基因组组装,从而发现了超过三百万个 SNP。为了减少由于低覆盖组装而导致的潜在假阳性 SNP,我们对序列覆盖度设置了一个较低的上限,并对潜在变异位点处的差异碱基的质量设置了一个较高的下限。在不同品种的家养猫中:阿比西尼亚雌猫、美国短毛雌猫、康沃尔雷克斯雄猫、欧洲缅甸雌猫、波斯雌猫、暹罗雌猫、拉格多尔雄猫和非洲野猫,都进行了轻度测序。我们报告了总共 964 万个适合家猫 SNP 基因分型阵列的常见 SNP,以及在非洲野猫和家猫品种之间检测到的另外 900 万个 SNP。对 94 个已发现的 SNP 进行了经验性抽样测试,在测序的猫中,SNP 验证率达到了 99%。

结论

这些数据提供了大量映射在家猫基因组中的 SNP,这将允许开发用于映射猫科疾病的 SNP 基因分型平台。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3f5/2996934/72b9eb0bf84c/1471-2164-11-406-1.jpg

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