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Sequencing_Tech_2019_Papers.md

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Key:

  • Hi-C, chromosome conformation capture
  • ONT, Oxford Nanopore Technology
  • PacBio, Pacific Biosciences
    • SMRT, Single-Molecule Real-Time
    • CLR, Continuous Long Read
    • CCS, Circular Consensus Sequencing
    • Hi-Fi, High-Fidelity
  • 📚 Review/Opinion Article
  • 🧬 Study involves human genome(s)
  • 🦠 Prokaryotic genome(s)
  • 🌱 Plant genome(s)
  • 💉 Focused towards medical genetics
  • 🛠 Includes tool/software development

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2019

Title: 🐭 & 🧬 Comparative analysis of sequencing technologies for single-cell transcriptomics

Platforms: BGISEQ-500 and Illumina (HiSeq2500 and HiSeq4000)

Title: 🇯🇵 🧬 Construction and Integration of Three De Novo Japanese Human Genome Assemblies toward a Population-Specific Reference

Description: Construction of a reference genome using hybrid scaffolding approach by integrating de novo assemblies of three Japanese male individuals. BionanoSolve software (v3.2) was used for hybrid scaffolding.

Platforms: PacBio RSII (using P6-C4 chemistry), Illumina HiSeq 2500 system (with a TruSeq Rapid PE Cluster kit and Rapid SBS kit), and Irys/Saphyr system (BioNano Genomics) for optical mapping.

Title: 🇰🇷 🧬 Chromosome-scale assembly comparison of the Korean Reference Genome KOREF from PromethION and PacBio with Hi-C mapping information

Description: The study concludes that "the pore-based PromethION approach provides a good quality chromosome-scale human genome assembly at a low cost and is much more cost-effective than PacBio."

Platforms: ONT PromethION R9.4.1, PacBio Sequel, Illumina HiSeq 2000, and Arima-HiC kit (A160105 v01)

Title: 📚💉🧬 Long-Read Sequencing Emerging in Medical Genetics

Description: A review article that discusses potential of long-read sequencing technologies in a context of advancements in medical genetics.

Title: 📚 🧬 Long-read sequencing in deciphering human genetics to a greater depth

Description: A review article focused towards advantages and limitations of long-read sequencing

Title: 🦠 Comparison of long-read sequencing technologies in the hybrid assembly of complex bacterial genomes

Title: 🌱 A critical comparison of technologies for a plant genome sequencing project

Description: Comparison between Illumina short read, PacBio, 10x Genomics linked reads, Dovetail Hi-C, and BioNano optical maps for assembling high-quality potato species Solanum verrucosum. The comparison involves assessment of completeness, accuracy, requirements, and sequencing costs.

Title: Illumina and Nanopore methods for whole genome sequencing of hepatitis B virus (HBV)

Title: Multi-platform discovery of haplotype-resolved structural variation in genomes

Title: 🧬 Sequencing of human genomes with nanopore technology

Description: The main focus of this study is the use of nanopore technology (MinION) for clinical use. In addition to evaluating performance of basecallers for SNV calls, the study also looked at comparison of large variants (>100bp) from read data generated by ONT, PacBio, and Illumina (section 3.2, supplementary).


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