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Search Thermo Fisher Scientific
DNA Sequencing is the process of reading nucleotide bases in a DNA molecule. Unlock the genome and answer biology’s most challenging questions with our innovative and accessible sequencing solutions.
For over 25 years, our sequencers have contributed to significant scientific breakthroughs, including sequencing of the first human genome and the discovery of genes implicated in diseases like cystic fibrosis. Our ongoing innovation in sequencing technologies continues to drive new discoveries.
From whole genome sequencing to targeted sequencing of specific genomic regions, our sequencing portfolio supports a wide range of throughput and research application needs for DNA sequencing.
Sequencing individual genes, gene regions, or sets of genes is a common targeted sequencing approach used in cancer and inherited disease research to screen known or discover novel germline and/or somatic mutations in focused areas of the genome.
"From the beginning" or de novo sequencing is the method of building a reference genome. This is achieved by randomly fragmenting the target DNA, sequencing then assembling those individual fragments to build a draft or even finished genome.
Targeted sequencing of the exome employs enrichment strategies that target coding exons. The exome encompasses approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations. For genetic researchers trying to unravel the causes of over 6,800 rare diseases [1], exome sequencing enables the identification of single-nucleotide variants (SNVs), small insertions or deletions (indels), and rare de novo mutations that explain the heritability of complex diseases [2].
Accurate variant confirmation using orthogonal technology (independent chemistry) follows discovery of novel variants. We offer the gold standard and a fast approach for labs to validate their discoveries.
Sequencing the 16S rRNA gene is an accurate and reliable method for microbial identification.
Expanded carrier screening and preimplantation genetic testing for positive impact on families around the world
For Research Use Only. Not for use in diagnostic procedures.