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Long-read DNA Sequencing

Developing the next generation of genetic tests

In-depth analysis of complex genetic variants

Proprietary algorithms and pipelines to streamline long-read testing

S E Q U E G E N I C S® is providing researchers and clinicians with comprehensive solutions and personalized support. We empower them to attain a unique in-depth comprehension of the genetic makeup underlying diseases, a feat made possible only through the utilization of the most sophisticated DNA sequencing technologies.

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Find answers with our automated and scalable technology

In addition to error correction, genome mapping and variant calling, our processes implement both simple and complex variant interpretation algorithms to determine their potential deleterious effect.

We integrate these pipelines into a cloud platform that facilitates the navigation of complex data sets in a highly efficient manner.

We delve deeper than ever before into the genetic composition of patients to find answers to previously unsolvable questions.

Discover and analyze
the genetic makeup of disease

With long-read sequencing, you will be able to analyze more complex genomic structures than short-read sequencing allows.

We build unique, propietary pipelines on top of the two major long-read technologies

Genome sequencing

Detect SNVs and all kinds of structural variants, phase them and evaluate methylation, all in a single test

Transcriptome sequencing

Characterize the diverse repertoire of full-lenght isoforms and their abundance to detect any aberrant transcript

Direct RNA sequencing

Study base modifications in RNA and unbiased estimation of isoforms abundance

EXPERTS IN LONG-READ

Comprehensive solutions, customized support

At Sequegenics® we not only provide analysis services but also train clinicians and researchers in the unique in-depth understanding of genetics made possible by the most sophisticated sequencing technologies.

Achieve more effective results in less time and at a lower cost

  • Top-notch account support

We work with you throughout the discovery process

  • At least 3x faster responses

With strategically automated data collection processes

  • Answers, not just data

Get detailed and precise information to better understand the genetics of your patients

Your long-read sequencing partner

Applications of Long-Read Sequencing

  • STRUCTURAL VARIANT DETECTION
  • Detect large genomic rearrangements often missed by short-read methods.
  • HAPLOTYPE PHASING
  • Distinguish between maternal and paternal alleles for inheritance studies.
  • DE NOVO GENOME ASSEMBLY
  • Build high-quality assemblies for novel species and complex genomes.
  • TRANSCRIPT ISOFORM ANALYSIS
  • Capture full RNA molecules to examine isoforms and gene expression.
  • REPEAT EXPANSION DISORDERS
  • Identify expansions related to conditions like Huntington’s.
  • MICROBIAL GENOMICS
  • Resolve complex microbial communities with species-level precision.
  • CANCER GENOMICS
  • Explore somatic mutations and translocations with high accuracy.
  • RARE DISEASE DISCOVERY
  • Find elusive variants linked to rare diseases.

Unique Benefits of Long-Read Sequencing

  • MAPPING COMPLEX REGIONS
  • Achieve accurate mapping of repetitive, GC-rich regions.
  • STRUCTURAL VARIANT DETECTION
  • Precisely capture large insertions, deletions, and inversions.
  • ALLELIC PHASING
  • Offer clear genotype-to-phenotype insights with phased haplotypes.
  • HIGH-QUALITY GENOMES
  • Enable near-complete genome assemblies with improved references.
  • SINGLE-MOLECULE RESOLUTION
  • Direct sequencing of single molecules for longer reads.
  • RNA BASE MODIFICATION
  • Combine PCR free RNA sequencing with detection of base modifications.
  • ENHANCED VARIANT ACCURACY
  • Improve detection accuracy, reducing false positives.
  • INTEGRATED EPIGENETIC PROFILING
  • Identify DNA methylation and other modifications during sequencing.

The Sequegenics® genome sequencing test is validated for home blood collection.

Obtain a sequenced long-read genome for less than 500 µL of blood collected at home.

Unlocking the Future of Genomics Together

Our WGS long-reading tests exceed standard metrics

Other providers
Sequegenics®
High-molecular weight gDNA extraction included
Average Read Length
⁓ 15kb
⁓ 25kb
Sequencing Coverage
~30x
~50x
Turnaround Time
> 2 months
< 3 weeks
Variant interpretation included
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Let’s talk about long-read! Contact us to solve your needs together

Write to us at contact@sequegenics.com and someone from our team will contact you.

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