Schmutzi: estimation of contamination and endogenous mitochondrial consensus calling for ancient DNA.

IF 12.3 1区 生物学 Q1 Agricultural and Biological Sciences Genome Biology Pub Date : 2015-10-12 DOI:10.1186/s13059-015-0776-0
Gabriel Renaud, Viviane Slon, Ana T Duggan, Janet Kelso
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引用次数: 289

Abstract

Unlabelled: Ancient DNA is typically highly degraded with appreciable cytosine deamination, and contamination with present-day DNA often complicates the identification of endogenous molecules. Together, these factors impede accurate assembly of the endogenous ancient mitochondrial genome. We present schmutzi, an iterative approach to jointly estimate present-day human contamination in ancient human DNA datasets and reconstruct the endogenous mitochondrial genome. By using sequence deamination patterns and fragment length distributions, schmutzi accurately reconstructs the endogenous mitochondrial genome sequence even when contamination exceeds 50 %. Given sufficient coverage, schmutzi also produces reliable estimates of contamination across a range of contamination rates.

Availability: https://bioinf.eva.mpg.de/schmutzi/ license:GPLv3.

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Schmutzi:估计污染和内源性线粒体共识呼吁古代DNA。
未标记:古代DNA通常高度降解,有明显的胞嘧啶脱胺作用,而现代DNA的污染往往使内源性分子的鉴定复杂化。总之,这些因素阻碍了内源性古代线粒体基因组的准确组装。我们提出schmutzi,一种迭代的方法来共同估计古代人类DNA数据集中的当今人类污染,并重建内源性线粒体基因组。通过序列脱氨模式和片段长度分布,即使污染超过50%,schmutzi也能准确地重建内源性线粒体基因组序列。如果有足够的覆盖率,schmutzi还可以对污染率范围内的污染进行可靠的估计。可用性:https://bioinf.eva.mpg.de/schmutzi/ license:GPLv3。
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来源期刊
Genome Biology
Genome Biology BIOTECHNOLOGY & APPLIED MICROBIOLOGY-GENETICS & HEREDITY
CiteScore
25.50
自引率
3.30%
发文量
0
审稿时长
14 weeks
期刊介绍: Genome Biology is a leading research journal that focuses on the study of biology and biomedicine from a genomic and post-genomic standpoint. The journal consistently publishes outstanding research across various areas within these fields. With an impressive impact factor of 12.3 (2022), Genome Biology has earned its place as the 3rd highest-ranked research journal in the Genetics and Heredity category, according to Thomson Reuters. Additionally, it is ranked 2nd among research journals in the Biotechnology and Applied Microbiology category. It is important to note that Genome Biology is the top-ranking open access journal in this category. In summary, Genome Biology sets a high standard for scientific publications in the field, showcasing cutting-edge research and earning recognition among its peers.
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