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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Related Experiment Video

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A Converging Strategy for the Generation of a Virtually Sequenced cDNA Library from Unreferenced Pacific Oysters
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High-quality reference genome for Clonorchis sinensis.

Neil D Young1, Andreas J Stroehlein1, Liina Kinkar1

  • 1Department of Veterinary Biosciences, Melbourne Veterinary School, Faculty of Veterinary and Agricultural Sciences, The University of Melbourne, Parkville, Victoria 3010, Australia.

Genomics
|March 7, 2021
PubMed
Summary
This summary is machine-generated.

A high-quality reference genome for the Chinese liver fluke, Clonorchis sinensis, was generated to aid in developing new treatments for clonorchiasis and cholangiocarcinoma, addressing drug resistance concerns.

Keywords:
Advanced bioinformaticsChinese liver flukeClonorchis sinensisReference genomeThird-generation sequencing

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Area of Science:

  • Parasitology
  • Genomics
  • Molecular Biology

Background:

  • Clonorchis sinensis causes clonorchiasis, a disease affecting millions, and is linked to cholangiocarcinoma.
  • Current praziquantel treatment risks anthelmintic resistance, necessitating new intervention discovery.
  • Previous C. sinensis genome assemblies were fragmented, hindering molecular research.

Purpose of the Study:

  • To generate a high-quality, chromosome-level reference genome for C. sinensis.
  • To provide a valuable resource for molecular investigations into C. sinensis, clonorchiasis, and cholangiocarcinoma.
  • To facilitate the discovery of novel drug or vaccine targets for this neglected disease complex.

Main Methods:

  • Integrated use of second- and third-generation DNA sequencing technologies.
  • Advanced bioinformatic approaches to assemble and curate the genome.
  • Development of chromosome-level contiguity and refined gene models.

Main Results:

  • A substantially enhanced, high-quality reference genome for C. sinensis was successfully constructed.
  • The new genome assembly exhibits chromosome-level contiguity.
  • Curated gene models were established, improving genomic resource quality.

Conclusions:

  • The enhanced C. sinensis genome is a critical resource for advancing research.
  • This genomic advancement will accelerate the identification of new therapeutic and vaccine targets.
  • It supports the development of urgently needed interventions against clonorchiasis and associated cancers.