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Read Clouds Uncover Variation in Complex Regions of the Human Genome

机译:阅读云揭示人类基因组复杂区域的变异

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The rapid advance of next-generation sequencing (NGS) technologies has decreased the cost of genomic sequencing dramatically, enabling accurate variant discovery across whole genomes of many individuals. Current large-scale and cost-effective resequencing platforms produce reads of limited length, and as a result, reliable identification of variants within highly homologous regions of a target genome remains challenging. The 1000 Genomes Consortium has identified nearly 171Mbp (6% of the GRCh37 build) which is inaccessible by short read technologies . Further studies have shown that this number is upwards of 10% for accurate variant discovery.
机译:下一代测序(NGS)技术的飞速发展极大地降低了基因组测序的成本,从而能够在许多个体的整个基因组中进行准确的变异发现。当前的大规模且具有成本效益的重测序平台产生有限长度的读数,结果,可靠鉴定靶基因组的高度同源区域内的变体仍然具有挑战性。 1000个基因组联盟已鉴定出将近171Mbp(占GRCh37构建的6%),短读技术无法访问。进一步的研究表明,对于准确的变体发现,该数字高达10%。

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