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Updated: Jun 26, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

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使用HMMSTR和向长读序列的疾病相关联并列重复的增强检测和基因定型

Kinsey Van Deynze, Camille Mumm, Connor J Maltby

    medRxiv : the preprint server for health sciences
    |May 15, 2024
    PubMed
    概括

    这项研究引入了HMMSTR,这是一种用于分析人类基因组中并列重复扩张的新工具. 它准确地识别了与疾病相关的遗传变异,改善了神经退行性疾病的诊断.

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    Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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    Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria

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    相关概念视频

    RNA-seq03:21

    RNA-seq

    RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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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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