Long-Read Sequencing Emerging in Medical Genetics
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Summary
The current LRS-based research on human genetic disorders is summarized and the potential of these technologies to facilitate the next major advancements in medical genetics is discussed.
- Type
- article
- Published
- 2019-05-07
- Cited by
- 378
- References
- 145
- Access
- Open access
- OpenAlex
- https://openalex.org/W31134132
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:146121217
Keywords
Computer science
References
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- Concurrent whole-genome haplotyping and copy-number profiling of single cells.
- Detection of Genomic Structural Variants from Next-Generation Sequencing Data
- Fragile X syndrome: the FMR1 CGG repeat distribution among world populations
- Assembly and diploid architecture of an individual human genome via single-molecule technologies
- Haplotype-based approach to known MS-associated regions increases the amount of explained risk
- An integrated map of structural variation in 2,504 human genomes
- SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure
- The GENCODE pseudogene resource
- Haplotype estimation using sequencing reads.
- Zero-Mode Waveguides for Single-Molecule Analysis at High Concentrations
- Direct detection of DNA methylation during single-molecule, real-time sequencing
- Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
- Resolving the complexity of the human genome using single-molecule sequencing
- Improved data analysis for the MinION nanopore sequencer
- Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly
- Summarizing and correcting the GC content bias in high-throughput sequencing
Cited by
- Exome sequencing of ion-beam-induced mutants facilitates the detection of candidate genes responsible for phenotypes of mutants in rice
- A robust benchmark for germline structural variant detection
- Jumping retroviruses nudge TADs apart
- De Novo Mutations Reflect Development and Aging of the Human Germline.
- RNA-Seq Perspectives to Improve Clinical Diagnosis
- Linking metagenomics to aquatic microbial ecology and biogeochemical cycles
- The Translational Status of Cancer Liquid Biopsies
- Knowledge, Beliefs, and Attitudes Concerning Genetic Testing Among Young Jordanians
- Next-Generation Sequencing Technologies in Blood Group Typing
- Challenges in identifying large germline structural variants for clinical use by long read sequencing
- Structural variant identification and characterization
- Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing
- Metatranscriptomics: an approach for retrieving novel eukaryotic genes from polluted and related environments
- Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology
- Genomic Analysis of Carbapenemase-Producing Extensively Drug-Resistant Klebsiella pneumoniae Isolates Reveals the Horizontal Spread of p18-43_01 Plasmid Encoding blaNDM-1 in South Africa
- Molecular profiling for precision cancer therapies
- High-Throughput Transcriptome Profiling in Drug and Biomarker Discovery
- New genomic features of the polled intersex syndrome variant in goats unraveled by long-read whole-genome sequencing.
- Sensitive, Highly Multiplexed Sequencing of Microhaplotypes From the Plasmodium falciparum Heterozygome
- Precise and Cost-Effective Nanopore Sequencing for Post-GWAS Fine-Mapping and Causal Variant Identification
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