関連する実験動画

Updated: Sep 9, 2025

Targeted DNA Methylation Analysis by Next-generation Sequencing
08:38

Targeted DNA Methylation Analysis by Next-generation Sequencing

Published on: February 24, 2015

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パンゲノムデータから短い読み取りの変数呼び出しのための簡単な領域を見つける

Heng Li1,2,3

  • 1Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02215, USA.

GigaScience
|September 4, 2025
PubMed
まとめ

研究者は,正確な短読変数呼び出しのためのサンプルアグノスティックな簡単な領域を開発しました. この新しいリソースは,研究と臨床の環境でヒトのサンプルに対する変異フィルタリングを改善します.

キーワード:
組み立てパンゲノム変数呼び出し

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関連する概念動画

Next-generation Sequencing03:00

Next-generation Sequencing

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....
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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. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
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Genome Annotation and Assembly03:36

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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