Co-barcoded sequence reads from long DNA fragments: a cost-effective solution for “perfect genome” sequencing
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Summary
Why the “perfect genome” in humans is important, what is lacking from current human whole genome sequences, and a potential strategy for achieving the ”perfect genome" in a cost effective manner are outlined.
- Type
- article
- Published
- 2015-01-14
- Cited by
- 21
- References
- 46
- Access
- Open access
- OpenAlex
- https://openalex.org/W1989580539
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:15592197
Keywords
Genome, Hybrid genome assembly, DNA sequencing, Biology, Computational biology
References
- De novo mutations in the classic epileptic encephalopathies
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
- Accurate Multiplex Polony Sequencing of an Evolved Bacterial Genome
- Whole Genome Sequencing in Autism Identifies Hotspots for De Novo Germline Mutation
- The diploid genome sequence of an Asian individual
- In vitro, long-range sequence information for de novo genome assembly via transposase contiguity
- Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry
- Charting a course for genomic medicine from base pairs to bedside
- Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism
- Rate of de novo mutations and the importance of father’s age to disease risk
- De novo mutations in schizophrenia implicate synaptic networks
- The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group.
- Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads
- Whole-genome haplotyping using long reads and statistical methods
- Genome sequencing identifies major causes of severe intellectual disability
- Genome-Wide Detection of Single Nucleotide and Copy Number Variations of a Single Human Cell
- The Ultimate Genetic Test
- Comprehensive human genome amplification using multiple displacement amplification
Cited by
- TruSPAdes: barcode assembly of TruSeq synthetic long reads
- The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes
- International Standards for Genomes, Transcriptomes, and Metagenomes.
- Haplotype phasing of whole human genomes using bead-based barcode partitioning in a single tube
- Efficient long single molecule sequencing for cost effective and accurate sequencing, haplotyping, and de novo assembly
- A simple bead-based method for generating cost-effective co-barcoded sequence reads
- Efficient and unique cobarcoding of second-generation sequencing reads from long DNA molecules enabling cost-effective and accurate sequencing, haplotyping, and de novo assembly
- Aquila_stLFR: assembly based variant calling package for stLFR and hybrid assembly for linked-reads
- Comparison of long-read methods for sequencing and assembly of a plant genome
- Accurate haplotype-resolved assembly reveals the origin of structural variants for human trios
- Status of perennial tree germplasm resources in India and their utilization in the context of global genome sequencing efforts
- High-resolution single-molecule long-fragment rRNA gene amplicon sequencing for uncultured bacterial and fungal communities
- Aquila_stLFR: diploid genome assembly based structural variant calling package for stLFR linked-reads
- High-resolution single-molecule long-fragment rRNA gene amplicon sequencing of bacterial and eukaryotic microbial communities.
- The First High-Quality Chromosome-Level Genome of the Lutjanus erythropterus (Bloch, 1790) Using Single-Tube Long Fragment Reads and Hi-C Technologies
- An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing
- Genome of tropical bed bug Cimex hemipterus (Cimicidae, Hemiptera) reveals tetraspanin expanded in bed bug ancestor
- AsmMix: an efficient haplotype-resolved hybrid de novo genome assembling pipeline
- Advanced Personal Genome Sequencing as the Ultimate Diagnostic Test
- PhD Thesis
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