Resolving the complexity of the human genome using single-molecule sequencing

Keywords

Human genome, Biology, Genetics, Genome, Structural variation

References

• Molecular cloning of a translocation breakpoint hotspot in 22q11.忠夫 松本, Hidehito Inagaki, Eriko Hosoba — 2007
• A Comprehensive Map of Mobile Element Insertion Polymorphisms in HumansЛ Т Фат, Ю П Вирченко — 2011
• A whole-genome assembly of Drosophila.Eugene W. Myers, Granger G. Sutton, Art L. Delcher — 2000
• A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational MechanismsJeffrey M. Kidd, Tina Graves, Tera L. Newman — 2010
• Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing dataChen-Shan Chin, David H. Alexander, Patrick Marks — 2013
• Closing gaps in the human genome with fosmid resources generated from multiple individualsDonald Bovee, Yang Zhou, Eric Haugen — 2008
• An assessment of the sequence gaps: Unfinished business in a finished human genomeEvan E. Eichler, Royden A. Clark, Xinwei She — 2004
• Origins and functional impact of copy number variation in the human genomeDonald F. Conrad, Dalila Pinto, Richard Redon — 2009
• Censor - a Program for Identification and Elimination of Repetitive Elements From DNA SequencesJerzy Jurka, Paul Klonowski, Vadim Dagman — 1996
• Reconstructing complex regions of genomes using long-read sequencing technologyJohn Huddleston, Swati Ranade, Maika Malig — 2014
• A vast collection of microbial genes that are toxic to bacteria.Aya Kimelman, Asaf Levy, Hila Sberro — 2012
• An integrated map of genetic variation from 1,092 human genomesGil A. McVean, Peter Donnelly, Anjali Gupta-Hinch — 2012
• A high-resolution recombination map of the human genomeAugustine Kong, Daníel F. Guðbjartsson, Jesús Sainz — 2002
• GMAP: a genomic mapping and alignment program for mRNA and EST sequenceTing‐Di Wu, C.K. Watanabe — 2005
• Mapping copy number variation by population scale genome sequencing1000 Genomes Project, Ryan E. Mills, Klaudia Walter — 2011
• Genomic dark matter: the reliability of short read mapping illustrated by the genome mappability scoreHayan Lee, Michael C. Schatz — 2012
• Real-Time DNA Sequencing from Single Polymerase MoleculesJohn Eid, Adrian Fehr, Jeremy Gray — 2009
• Using population admixture to help complete maps of the human genomeGiulio Genovese, Robert E. Handsaker, Heng Li — 2013
• Mapping single molecule sequencing reads using basic local alignment with successive refinement (BLASR): application and theoryMark Chaisson, Glenn Tesler — 2012
• Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transpositionAndrew Adey, Hilary G. Morrison, Asan — 2010

Cited by

• Molecular diagnostics for hereditary hearing loss in childrenかをる 帯刀, 孝子 竹内, 正子 高橋 — 2017
• Long-Read Sequencing Emerging in Medical GeneticsNurul Hanilah Mohd Ismath, Yus Nazariah Abdullah, Fatimah Suo Yan Mei — 2019
• Initial Analysis of Structural Variation Detections in Cattle Using Long-Read Sequencing MethodsTsutomu Miyasato — 2022
• Counting copy number and caloriesStefan J. White — 2015
• Structural variation discovery in the cancer genome using next generation sequencing: Computational solutions and perspectivesBiao Liu, Jeffrey M. Conroy, Carl D. Morrison — 2015
• Startups use short-read data to expand long-read sequencing marketMichael Eisenstein — 2015
• Detection of Genomic Structural Variants from Next-Generation Sequencing DataLorenzo Tattini, Romina D’Aurizio, Alberto Magi — 2015
• Beyond the reference genomeCarlos D. Bustamante, Morten Rasmussen — 2015
• High-Throughput Sequencing TechnologiesJason Reuter, Damek V. Spacek, M Snyder — 2015
• Assembling large genomes with single-molecule sequencing and locality-sensitive hashingKonstantin Berlin, Sergey Koren, Chen-Shan Chin — 2014
• Haplotype-resolved genome sequencing: experimental methods and applicationsMatthew W. Snyder, Andrew Adey, Jacob O. Kitzman — 2015
• Human structural variation: mechanisms of chromosome rearrangementsBrooke Weckselblatt, M. Katharine Rudd — 2015
• Next-Generation Sequencing Approaches in Cancer: Where Have They Brought Us and Where Will They Take Us?Véronique Leblanc, Marco A. Marra — 2015
• Assembly and diploid architecture of an individual human genome via single-molecule technologiesMatthew Pendleton, Robert Sebra, Andy Wing Chun Pang — 2015
• Exome sequencing and whole genome sequencing for the detection of copy number variationJayne Y. Hehir‐Kwa, Rolph Pfundt, Joris A. Veltman — 2015
• DBG2OLC: Efficient Assembly of Large Genomes Using the Compressed Overlap GraphChengxi Ye, Chris H. Hill, Jue Ruan — 2015
• Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disordersHenrik Stranneheim, Anna Wedell — 2016
• Algorithms and statistical models for scaffolding contig assemblies and detecting structural variants using read pair dataKristoffer Sahlin — 2015
• An integrated map of structural variation in 2,504 human genomesPeter H. Sudmant, Tobias Rausch, Eugene J. Gardner — 2015
• Contact genomics: scaffolding and phasing (meta)genomes using chromosome 3D physical signaturesJean‐François Flot, Hervé Marie-Nelly, Romain Koszul — 2015

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