Jove
Visualize
お問い合わせ
JoVE
x logofacebook logolinkedin logoyoutube logo
JoVEについて
概要リーダーシップブログJoVEヘルプセンター
著者向け
出版プロセス編集委員会範囲と方針査読よくある質問投稿
図書館員向け
推薦の声購読アクセスリソース図書館諮問委員会よくある質問
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experimentsアーカイブ
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教員リソースセンター教員サイト
利用規約
プライバシーポリシー
ポリシー

関連する概念動画

Genetic Drift03:33

Genetic Drift

42.8K
Natural selection—probably the most well-known evolutionary mechanism—increases the prevalence of traits that enhance survival and reproduction. However, evolution does not merely propagate favorable traits, nor does it always benefit populations.
42.8K
Evolutionary Relationships through Genome Comparisons02:54

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
Gene Evolution - Fast or Slow?02:05

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...
7.9K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.2K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

61.6K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
61.6K
Genetic Variation01:25

Genetic Variation

1.2K
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
1.2K

こちらも読む

関連記事

共著者、ジャーナル、引用グラフによってこの研究に関連する記事。

並び替え
Same author

BayesCNV: A Bayesian Hierarchical Model for Sensitive and Specific Copy Number Estimation in Cell Free DNA.

Diagnostics (Basel, Switzerland)·2026
Same author

Comparative Genomic and Microenvironmental Profiles of Hereditary and Sporadic TNBC in Colombian Women.

Biology·2025
Same author

The Consortium for Genomic Diversity, Ancestry, and Health in Colombia (CÓDIGO): building local capacity in genomics and bioinformatics.

Communications biology·2025
Same author

The Consortium for Genomic Diversity, Ancestry, and Health in Colombia (CÓDIGO): building local capacity in genomics, bioinformatics, and precision medicine.

bioRxiv : the preprint server for biology·2025
Same author

African ancestry-enriched variants in the <i>GATM</i> gene are associated with elevated serum creatinine levels.

medRxiv : the preprint server for health sciences·2025
Same author

Neighbourhood deprivation and cardiometabolic outcomes in the UK Biobank: differences by sex and ethnicity.

Open heart·2025

関連する実験動画

Updated: Jan 7, 2026

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.7K

Pastrami：ファインスケール遺伝的祖先推論のための高速かつ効率的なアルゴリズム

Andrew B Conley1,2, Lavanya Rishishwar1,2, Shivam Sharma3

  • 1National Institute of Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD 20892, United States.

NAR genomics and bioinformatics
|December 25, 2025
PubMed
まとめ

新しいアルゴリズムであるPastramiは、大規模バイオバンク向けの高速かつ効率的な遺伝的祖先推論を提供します。既存の方法と同程度の精度を達成しますが、実行速度は約45倍高速であり、ゲノミクス研究の計算時間を大幅に短縮します。

キーワード:
ゲノム解析バイオバンク遺伝的祖先アルゴリズム計算ゲノミクス

さらに関連する動画

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
05:01

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

3.7K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.7K

関連する実験動画

Last Updated: Jan 7, 2026

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.7K
A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
05:01

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

3.7K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.7K

科学分野:

  • ゲノミクス
  • 集団遺伝学
  • バイオインフォマティクス

背景:

  • 大規模なゲノミクス研究は、多数の参加者を持つバイオバンクに依存しています。
  • 現在の遺伝的祖先推論方法は、これらの大規模データセットには遅すぎます。

研究 の 目的:

  • バイオバンク規模のコホートにおけるファインスケール遺伝的祖先推論のための計算効率の高いアルゴリズムを開発すること。
  • 既存の方法の速度とリソース要件に関する制限に対処すること。

主な方法:

  • 教師あり遺伝的祖先推論のためのPastramiアルゴリズムを開発しました。
  • Pastramiはハプロタイプを比較し、コピーベクトルを作成し、非負最小二乗回帰を使用します。
  • アフリカ、アメリカ、英国のゲノムデータセットでPastramiを評価し、ChromoPainterおよびRFMixと比較しました。

主要な成果:

  • Pastramiは、ChromoPainterおよびRFMixと比較して、非常に類似した祖先推定値を示しました。
  • アルゴリズムは、サンプルサイズの増加に伴ってCPU時間が線形に増加することを示しています。
  • Pastramiは、ChromoPainterよりも約45倍高速な実行時間を達成し、大規模データセットを大幅に迅速に処理しました。

結論:

  • Pastramiは、大規模バイオバンクにおける遺伝的祖先推論のための高速かつ効率的なソリューションを提供します。
  • アルゴリズムのパフォーマンスにより、大規模なゲノム研究が計算上より実行可能になります。
  • PastramiはGitHubで無料で利用でき、研究コミュニティでの幅広い採用を促進します。