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Human-Genome_assembly_review

Papers for Review

Papers About Reference Genome
  1. Is it time to change the reference genome?
  2. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

Blogs

  1. Reference Genome Improvement
  2. A critical tool for human genomics and precision medicine: De novo human genome assembly
  3. New High-Resolution Genome Assemblies Expand Our Understanding of Human-Ape Differences
  4. Genome Reference Consortium
  5. Blog by Andrew Severin and sequencing basics
  6. Writing the human genome
  7. Dawn of good, fast and cheap human genome assembly
  8. Lessons from the Human Genome Project
  9. Nanopore Blogs
Papers About Reference Genome Assembly
  1. Human Genome Assembly in 100 Minutes
  2. Assembler 1: SAGE2: parallel human genome assembly
  3. Nanopore sequencing and assembly of a human genome with ultra-long reads
  4. Dense and accurate whole-chromosome haplotyping of individual genomes.
  5. The Theory and Practice of Genome Sequence Assembly
  6. NovoGraph: Human genome graph construction from multiple long-read de novo assemblies
  7. Genetic variation and the de novo assembly of human genomes
  8. Ten steps to get started in Genome Assembly and Annotation
  9. The A, C, G, and T of Genome Assembly
  10. The bioinformatics tools for the genome assembly and analysis based on third-generation sequencing
  11. Current challenges and solutions of de novo assembly
  12. Reference-guided de novo assembly approach improves genome reconstruction for related species
  13. A field guide to whole‐genome sequencing, assembly and annotation
  14. New Approaches for Genome Assembly and Scaffolding
  15. Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics
  16. Is It Ordered Correctly? Validating Genome Assemblies by Optical Mapping
  17. Improving ancient DNA genome assembly
  18. GAGE: A critical evaluation of genome assemblies and assembly algorithms
  19. GRASShopPER—An algorithm for de novo assembly based on GPU alignments
  20. Using Apache Spark on genome assembly for scalable overlap-graph reduction
  21. De novo assembly using Illumina Reads
  22. SORA: Scalable Overlap-graph Reduction Algorithms for Genome Assembly using Apache Spark in the Cloud
  23. Versatile genome assembly evaluation with QUAST-LG
  24. Meraculous2: fast accurate short-read assembly of large polymorphic genomes
  25. MitoZ: a toolkit for animal mitochondrial genome assembly, annotation and visualization
  26. Norgal: extraction and de novo assembly of mitochondrial DNA from whole-genome sequencing data
  27. A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing
  28. Investigating Human Mitochondrial Genomes in Single Cells
  29. Next-Generation Sequencing of Human Mitochondrial Reference Genomes Uncovers High Heteroplasmy Frequency
  30. SMART: Statistical Mitogenome Assembly with Repeats
  31. Statistical Mitogenome Assembly with RepeaTs
  32. MitoSuite: a graphical tool for human mitochondrial genome profiling in massive parallel sequencing
  33. Reliable Resequencing of Human Mitochondrial Genome to Identify Mutations Linked to Mitochondrial Related Diseases
  34. mitoMaker: A Pipeline for Automatic Assembly and Annotation of Animal Mitochondria Using Raw NGS Data
  35. GMASS: a novel measure for genome assembly structural similarity
  36. dnAQET: a framework to compute a consolidated metric for benchmarking quality of de novo assemblies
  37. CONNET: Accurate Genome Consensus in Assembling Nanopore Sequencing Data via Deep Learning
  38. Assembly of long, error-prone reads using repeat graphs
  39. Scalable Genome Assembly through Parallel de Bruijn Graph Construction for Multiple k-mers
  40. GPU-Accelerated Large-Scale Genome Assembly
  41. BlobToolKit – Interactive Quality Assessment of Genome Assemblies
  42. Minimap2: pairwise alignment for nucleotide sequences
  43. Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
  44. Faucet: streaming de novo assembly graph construction