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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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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.
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Sanger Sequencing01:57

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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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RNA-seq03:21

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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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Genomics02:02

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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...
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Strand-seq and the future of personalized genomics.

Vincent C T Hanlon1, Peter M Lansdorp2,3

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Single-cell Strand-seq combined with long-read data improves genomic variation analysis. This technique enables precise phasing of genetic variants, advancing personalized genomics and rare disease diagnosis.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Human genome sequencing promised personalized genomics for disease risk and drug response.
  • Genome-wide association studies have identified genetic variants linked to heritable disorders.
  • Undiagnosed rare diseases persist due to challenges in characterizing and phasing genomic variation.

Purpose of the Study:

  • To review the principles and applications of the single-cell Strand-seq technique.
  • To highlight Strand-seq's role in advancing personalized genomics and rare disease diagnostics.
  • To discuss how Strand-seq enables comprehensive genomic variation analysis.

Main Methods:

  • Utilizing single-cell Strand-seq for chromosome-length phasing.
  • Integrating Strand-seq with long-read sequencing data.
  • Employing DNA methylation to assign variants to specific homologous chromosomes.

Main Results:

  • Strand-seq enables nearly complete descriptions of genomic variation through diploid assembly.
  • New phasing methods leverage DNA methylation for precise variant assignment to maternal or paternal chromosomes.
  • Improved phasing capabilities enhance the characterization of complex genomic variations.

Conclusions:

  • Strand-seq is a key technology for overcoming limitations in genomic variation analysis.
  • This technique represents a significant advancement in personalized genomics.
  • Strand-seq facilitates improved diagnosis for rare diseases by enabling comprehensive genomic characterization.