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NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

Genome Biology

Nov 14, 2019

Arne De RoeckKristel Sleegers

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Abstract

Technological limitations have hindered the large-scale genetic investigation of tandem repeats in disease. We show that long-read sequencing with a single Oxford Nanopore Technologies PromethION flow cell per individual achieves 30× human genome coverage and enables accurate assessment...read more

Mentioned in this Paper

Alleles
Alzheimer's Disease
Genome
Evaluation
Sitting Root Test
Tandem Mass Spectrometry
Genetic Assessment
Analysis
Nucleic Acid Sequencing
ABCA7 protein, human
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NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

Genome Biology

Nov 14, 2019

Arne De RoeckKristel Sleegers

PMID: 31727106

DOI: 10.1186/s13059-019-1856-3

Abstract

Technological limitations have hindered the large-scale genetic investigation of tandem repeats in disease. We show that long-read sequencing with a single Oxford Nanopore Technologies PromethION flow cell per individual achieves 30× human genome coverage and enables accurate assessment...read more

Mentioned in this Paper

Alleles
Alzheimer's Disease
Genome
Evaluation
Sitting Root Test
49
1
Paper Details
References
  • References
  • Citations
  • finger pointing at paper

    References currently unavailable

    We're still populating references for this paper, please check back later.
  • References
  • Citations
  • quote and clock

    No citations available

    This paper may not have been cited yet.

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