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Updated: Jun 12, 2026

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

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シーケンスからの柔軟なリード認識型遺伝子型補完：バイオバンク規模の参照パネルを使用

Zilong Li1, Anders Albrechtsen2, Robert W Davies3,4

  • 1Computational and RNA Biology, Department of Biology, University of Copenhagen, Copenhagen, Denmark. zilong.dk@gmail.com.

Nature communications
|December 13, 2025
PubMed
まとめ

QUILT2は、非侵襲的出生前検査からの細胞フリーDNAを含む、さまざまなDNAタイプからの高速かつ正確な遺伝子補完を可能にします。この方法は、母体と胎児の両方のゲノム研究と健康リスク予測を進歩させます。

キーワード:
遺伝子型補完ゲノミクス健康リスク予測非侵襲的出生前検査母体ゲノム胎児ゲノムGWASPRSオックスフォードナノポアテクノロジーズ古代DNA

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Infinium Assay for Large-scale SNP Genotyping Applications13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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関連する概念動画

Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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.