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RNA-seq

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.
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Related Experiment Video

Updated: Jun 24, 2026

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

High-throughput, high-accuracy array-based resequencing.

Jianbiao Zheng¹, Martin Moorhead, Li Weng

¹Affymetrix Inc., 3420 Central Expressway, Santa Clara, CA 95051, USA.

Proceedings of the National Academy of Sciences of the United States of America

|April 4, 2009

Summary

This summary is machine-generated.

This study introduces a new high-throughput pipeline for DNA resequencing, enabling the identification of rare genetic variants linked to common diseases. This technology overcomes previous limitations, improving genetic disease research.

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Last Updated: Jun 24, 2026

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Area of Science:

Genetics
Genomics
Molecular Biology

Background:

Genomewide association studies (GWAS) identify common single-nucleotide polymorphisms (SNPs) but explain limited disease variability.
Rare alleles, potentially missed by GWAS, may significantly contribute to common diseases.

Purpose of the Study:

To develop and validate a high-throughput, high-accuracy resequencing pipeline for identifying rare alleles.
To overcome limitations of previous array-based resequencing methods.

Main Methods:

A fully multiplexed pipeline involving target amplification, allele enrichment, and resequencing array interrogation.
Resequencing approximately 5 Mb of DNA (exons of 1,500 genes) in over 473 samples, totaling >2,350 Mb sequenced.

Main Results:

Achieved a false positive rate of approximately 1 in 500,000 base pairs.
Demonstrated a false negative rate of approximately 10% in a large-scale study.

Conclusions:

The developed pipeline offers a high-throughput and high-accuracy solution for rare allele identification.
This advancement facilitates comprehensive genetic analysis for common diseases by uncovering previously missed variants.