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Updated: Jun 14, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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DeepSomatic:用于多种测序技术的准确的体质小变体发现

Jimin Park1, Daniel E Cook2, Pi-Chuan Chang2

  • 1UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.

bioRxiv : the preprint server for biology
|September 4, 2024
PubMed
概括

新的深度学习工具DeepSomatic使用短读和长读测序数据准确检测SNV和indel等体变体. 它还为癌症基因组学研究提供了有价值的数据集.

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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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...
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