基于低质量的DNA全基因组测序数据的法医调查遗传谱系
Jingwei Lu1, Jing Liu2, Jing Li3
1School of Criminal Investigation, People's Public Security University of China, Beijing 100038, China; Key Laboratory of Forensic Genetics, Beijing Engineering, Research Center of Crime Scene Evidence Examination, National Engineering Laboratory for Forensic Science, Institute of forensic science, Beijing 100038, China.
Forensic science international. Genetics
|December 31, 2025
概括
全基因组测序 (WGS) 准确地在退化的DNA上进行法医调查基因谱系 (FIGG). 基因型归算显著提高了低质量的DNA样本的FIGG准确性,改善了法医亲属关系分析.
科学领域:
- 法医科学 法医科学 法医科学
- 遗传学 遗传学 是一个
- 生物信息学是一种生物信息学.
背景情况:
- 单核酸多态 (SNP) 微阵列技术是法医调查遗传谱系 (FIGG) 的标准,但需要高质量的DNA.
- 全基因组测序 (WGS) 显示出对退化DNA的基因型定型有前途,提供了更好的SNP调用率和对微阵列的一致性.
研究的目的:
- 用低质量的DNA样本的WGS数据来评估FIGG的准确性.
- 评估DNA输入量和碎片化对FIGG准确性的影响.
- 为了确定基因型归算在改善FIGG从退化DNA的结果中的有效性.
主要方法:
- 在不同的输入量 (1.0-0.05 ng) 和碎片化 (500-50 bp) 的DNA样本上进行了WGS.
- 提取的自体SNP与微阵列数据相比较,用于通过同等状态 (IBS) 通过身份-按-血统 (IBD) 进行亲属分析.
- 应用基因型归算到低质量的WGS数据,以评估基因谱推断准确性的改进.
主要成果:
- 用0.5 ngDNA输入的FIGG精度与200 ng的精度相匹配.
- 200bp片段长度的DNA样本显示精度与非降解DNA相比.
- 精度明显降低到0.2 ng输入或100 bp碎片长度以下 (P < 0.05).
- 基因型归算显著提高了所有测试的低质量样本 (0.2 ng,0.1 ng,0.05 ng,100 bp,50 bp) 的家谱推断准确度.
- 与标准样本相比,假定样本在准确度上没有显著差异 (P > 0.05).
结论:
- WGS是FIGG与退化DNA的可行技术,特别是与基因型归算相结合时.
- 基因型归因有效地从低输入和碎片化DNA中拯救了谱系推断的准确性.
- 这些发现为在法医调查中使用低质量的DNA推断亲属关系提供了方法指导.
相关概念视频
Evolutionary Relationships through Genome Comparisons
6.8K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
6.8K
Genomics
39.5K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
39.5K
Modern Molecular Taxonomy
541
Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
541
Next-generation Sequencing
97.6K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
97.6K
Sanger Sequencing
772.7K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
772.7K
Gene Evolution - Fast or Slow?
7.9K
The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
In contrast, regions which code...
7.9K


