Mapping and phasing of structural variation in patient genomes using nanopore sequencing
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Title
Mapping and phasing of structural variation in patient genomes using nanopore sequencing
Authors
Keywords
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Journal
Nature Communications
Volume 8, Issue 1, Pages -
Publisher
Springer Nature
Online
2017-10-31
DOI
10.1038/s41467-017-01343-4
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- (2017) Sjors Middelkamp et al. Genome Medicine
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- (2016) Heng Li BIOINFORMATICS
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- (2016) Laurent C Francioli et al. EUROPEAN JOURNAL OF HUMAN GENETICS
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- (2016) Jeong-Sun Seo et al. NATURE
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- (2016) David Deamer et al. NATURE BIOTECHNOLOGY
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- (2016) Claire Redin et al. NATURE GENETICS
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- (2016) Olivia Corradin et al. NATURE GENETICS
- A hybrid approach for de novo human genome sequence assembly and phasing
- (2016) Yulia Mostovoy et al. NATURE METHODS
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- (2016) Euan A. Ashley NATURE REVIEWS GENETICS
- Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring
- (2015) Mirjam S. de Pagter et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Sambamba: fast processing of NGS alignment formats
- (2015) Artem Tarasov et al. BIOINFORMATICS
- Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
- (2015) Xiaoyu Chen et al. BIOINFORMATICS
- Assessing structural variation in a personal genome—towards a human reference diploid genome
- (2015) Adam C English et al. BMC GENOMICS
- Structural variation mutagenesis of the human genome: Impact on disease and evolution
- (2015) James R. Lupski ENVIRONMENTAL AND MOLECULAR MUTAGENESIS
- Oxford Nanopore sequencing, hybrid error correction, and de novo assembly of a eukaryotic genome
- (2015) Sara Goodwin et al. GENOME RESEARCH
- WhatsHap: Weighted Haplotype Assembly for Future-Generation Sequencing Reads
- (2015) Murray Patterson et al. JOURNAL OF COMPUTATIONAL BIOLOGY
- An integrated map of structural variation in 2,504 human genomes
- (2015) Peter H. Sudmant et al. NATURE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Assembly and diploid architecture of an individual human genome via single-molecule technologies
- (2015) Matthew Pendleton et al. NATURE METHODS
- The Dfam database of repetitive DNA families
- (2015) Robert Hubley et al. NUCLEIC ACIDS RESEARCH
- Extending reference assembly models
- (2015) Deanna M Church et al. GENOME BIOLOGY
- Poretools: a toolkit for analyzing nanopore sequence data
- (2014) N. J. Loman et al. BIOINFORMATICS
- Genome sequencing identifies major causes of severe intellectual disability
- (2014) Christian Gilissen et al. NATURE
- Resolving the complexity of the human genome using single-molecule sequencing
- (2014) Mark J. P. Chaisson et al. NATURE
- LUMPY: a probabilistic framework for structural variant discovery
- (2014) Ryan M Layer et al. GENOME BIOLOGY
- A reference bacterial genome dataset generated on the MinION™ portable single-molecule nanopore sequencer
- (2014) Joshua Quick et al. GigaScience
- MATE-CLEVER: Mendelian-inheritance-aware discovery and genotyping of midsize and long indels
- (2013) Tobias Marschall et al. BIOINFORMATICS
- DELLY: structural variant discovery by integrated paired-end and split-read analysis
- (2012) T. Rausch et al. BIOINFORMATICS
- Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly
- (2012) Ernest T Lam et al. NATURE BIOTECHNOLOGY
- Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
- (2012) Colby Chiang et al. NATURE GENETICS
- Generation of human induced pluripotent stem cells from urine samples
- (2012) Ting Zhou et al. Nature Protocols
- Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms
- (2012) Wigard P. Kloosterman et al. Cell Reports
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- The importance of phase information for human genomics
- (2011) Ryan Tewhey et al. NATURE REVIEWS GENETICS
- Genome structural variation discovery and genotyping
- (2011) Can Alkan et al. NATURE REVIEWS GENETICS
- Unlocking Mendelian disease using exome sequencing
- (2011) Christian Gilissen et al. GENOME BIOLOGY
- Structural Variation in the Human Genome and its Role in Disease
- (2010) Paweł Stankiewicz et al. Annual Review of Medicine
- Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization
- (2010) Valentina Boeva et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Clinical assessment incorporating a personal genome
- (2010) Euan A Ashley et al. LANCET
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- (2009) K. Ye et al. BIOINFORMATICS
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