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Updated: May 17, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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Published on: January 16, 2019

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VarMeter2:一种基于结构的增强方法,通过Mahalanobis距离来预测致病性误解变体.

Shiho Ohno1, Chika Ogura2, Akane Yabuki3

  • 1Division of Structural Glycobiology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Miyagi 981-8558, Japan.

Computational and structural biotechnology journal
|March 31, 2025
PubMed
概括

VarMeter2是一个新的工具,使用结构特征准确预测误解变体的病原性. 它有助于诊断罕见疾病,如Sanfilippo综合征A,通过识别引起疾病的遗传变化.

关键词:
错误的意义变体.突变能量是一种能量.N-硫糖胺硫酸盐酶的硫糖胺.致病性 致病性 致病性溶剂可访问的表面积是溶剂可访问的表面积.pLDDTTT 这就是为什么.

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

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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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