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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

5.9K
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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Genome Copying Errors02:46

Genome Copying Errors

4.4K
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

11.6K
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%...
11.6K
Next-generation Sequencing03:00

Next-generation Sequencing

88.0K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
88.0K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

14.8K
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,...
14.8K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.7K
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...
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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

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人口規模のゲノムシーケンシングによるコピーの数の変動をマッピング.

Ryan E Mills1, Klaudia Walter, Chip Stewart

  • 1Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Nature
|February 5, 2011
PubMed
まとめ
この要約は機械生成です。

この研究は,ヒトゲノム構造変異 (SV) を核酸解像度でマッピングし,その起源と機能的影響に関する洞察を明らかにします. 総合的なSVマップは,将来の遺伝子関連研究を支援します.

さらに関連する動画

Detection of Copy Number Alterations Using Single Cell Sequencing
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Detection of Copy Number Alterations Using Single Cell Sequencing

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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関連する実験動画

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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 19, 2013

19.0K
Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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科学分野:

  • ゲノミクスゲノミクスとは
  • 人間の遺伝学 人間の遺伝学
  • バイオインフォマティックス

背景:

  • ゲノム構造変異 (SVs) は人間に共通しているが,その正確な構造はしばしば不明である.
  • SVを理解することは,その機能的影響と人間の多様性における役割を解釈するために極めて重要です.

研究 の 目的:

  • 人間のゲノムにおける不均衡のSVの高解像度マップを構築する.
  • SVsの起源,機能的影響,形成メカニズムを分析する.
  • シーケンシングベースの関連研究のためのリソースを提供すること.

主な方法:

  • 185人のヒトゲノムの全ゲノムDNA配列解析.
  • 補完的なSV発見アプローチの統合.
  • 特定されたVSの広範な実験的検証.

主要な成果:

  • 22,025の削除と6,000の他の SV (挿入,重複) の地図.
  • SVの53%が核酸解像度でマッピングされ,詳細な分析が可能になりました.
  • 異なるメカニズムによるSVsの高周波消去および明確なサイズスペクトルの遺伝子破壊の枯渇.

結論:

  • 開発された分析フレームワークとSVマップは,遺伝子研究にとって貴重なリソースです.
  • 高解像度のSVマッピングは,ヒトゲノム変異の理解を高めます.
  • この研究は,SVホットスポットと形成メカニズムについての洞察を提供します.