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Updated: Sep 9, 2025

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

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

Published on: January 16, 2019

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ブラウンベア (Ursus arctos) のアミラーゼ遺伝子 (AMY) の複製数変異,全ゲノム再配列データに基づく

Naoko Kotani1, Yu Endo2, Naoki Osada3

  • 1Department of Biological Sciences, School of Science, Hokkaido University, Sapporo 060-0810, Japan.

Zoological science
|September 5, 2025
PubMed
まとめ

ブラウンベアのアミラーゼ遺伝子複製数 (CNV) 変異は,異なる食事と集団の歴史への適応を反映しています. 東アジアのクマはアミラーゼ遺伝子のコピーが少ないので 低粉の食事に適応していることを示唆しています

キーワード:
アミラーゼブラウン・ベアコピー番号の変更人口統計ゲノム全体のシーケンシング

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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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...
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