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Full text 2020

TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data

Bolognini D, Magi A, Benes V, et al.

<h4>Background</h4>Tandem repeat sequences are widespread in the human genome, and their expansions cause multiple repeat-mediated disorders. Genome-wide discovery approaches are needed to fully elucidate their roles in health and disease, but resolving tandem repeat variation …

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Nanopore Sequencing
Full text 2020

A new era of long-read sequencing for cancer genomics

Sakamoto Y, Sereewattanawoot S, Suzuki A.

Cancer is a disease largely caused by genomic aberrations. Utilizing many rapidly emerging sequencing technologies, researchers have studied cancer genomes to understand the molecular statuses of cancer cells and to reveal their vulnerabilities, such as …

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Epigenetics Transcriptomics
Full text 2020

CRISPR-Cas9 enrichment and long read sequencing for fine mapping in plants

López-Girona E, Davy MW, Albert NW, et al.

<h4>Background</h4>Genomic methods for identifying causative variants for trait loci applicable to a wide range of germplasm are required for plant biologists and breeders to understand the genetic control of trait variation.<h4>Results</h4>We implemented Cas9-targeted sequencing for …

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Nanopore Sequencing
Full text 2022

Oxford Nanopore R10.4 long-read sequencing enables the generation of near-finished bacterial genomes from pure cultures and metagenomes without short-read or reference polishing

Sereika M, Kirkegaard RH, Karst SM, et al.

Long-read Oxford Nanopore sequencing has democratized microbial genome sequencing and enables the recovery of highly contiguous microbial genomes from isolates or metagenomes. However, to obtain near-finished genomes it has been necessary to include short-read polishing …

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Nanopore Sequencing