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Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

author

Aaron M Wenger

William J Rowell

Pi-Chuan Chang

Gregory T Concepcion

Nathan D Olson

Chen-Shan Chin

Adam Phillippy

Jue Ruan

Tobias Marschall

Fritz Sedlazeck

Justin M Zook

Heng Li

David R Rank

Michael W. Hunkapiller

1948 -

Eugene Myers

1953 -

published in: Nature Biotechnology

date of publication: 2019-08-12

Cites articles 50

Date

Title

Authors

2019-04-16

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Ashley D Sanders, Xuefang Zhao, David Porubsky, Tobias Rausch, Eugene J Gardner, Li Guo, Robert E Handsaker, Susan Fairley, Aaron M Wenger, Danny Antaki, Peter A Audano, Xintong Chen, Chen-Shan Chin, Zechen Chong, Deanna M. Church, Laura Clarke, David U Gorkin, Victor Guryev, Haynes Heaton, Jonas Korlach, Joyce Lee, Sascha Meiers, Katherine M Munson, Fábio C P Navarro, Yunjiang Qiu, Ernesto Lowy, Sergei Yakneen, Bing Ren, Paul Flicek, Ken Chen, Pui-Yan Kwok, Jonathan Sebat, Xinghua Shi, Tobias Marschall, Jan Korbel, Evan E. Eichler, Steven A McCarroll, Mark Bender Gerstein, Gabor T Marth, Adrian M Stütz, Fereydoun Hormozdiari, Mark J P Chaisson
2019-04-01

An open resource for accurately benchmarking small variant and reference calls

Justin M Zook, Haynes Heaton, Francisco M De La Vega, Marc L Salit, Stephen T Sherry
2019-03-11

Best practices for benchmarking germline small-variant calls in human genomes

Paul C. Boutros, Christopher E. Mason, Francisco M De La Vega, Benjamin L Moore, Justin M Zook
2019-03-01

A multi-task convolutional deep neural network for variant calling in single molecule sequencing

Ruibang Luo, Fritz Sedlazeck
2018-12-17

Long-read sequence and assembly of segmental duplications

Mitchell R Vollger, Philip Dishuck, Melanie Sorensen, Evan E. Eichler, Mark J P Chaisson
2018-09-01

A fast adaptive algorithm for computing whole-genome homology maps

Adam Phillippy, Srinivas Aluru, Alexander Dilthey, Sergey Koren, Chirag Jain
2018-10-22

De novo assembly of haplotype-resolved genomes with trio binning

Arang Rhie, Alexander Dilthey, Derek M Bickhart, Sarah Kingan, Stefan Hiendleder, John L. Williams, Adam Phillippy, Sergey Koren
2018-09-24

A universal SNP and small-indel variant caller using deep neural networks

Ryan Poplin
2018-07-16

A synthetic-diploid benchmark for accurate variant-calling evaluation

Jonathan Bloom, Benjamin M. Neale
2018-01-01

High-Resolution Full-Length HLA Typing Method Using Third Generation (Pac-Bio SMRT) Sequencing Technology
2018-09-01

Minimap2: pairwise alignment for nucleotide sequences
2018-06

Accurate detection of complex structural variations using single-molecule sequencing

Moritz Smolka, Maria Nattestad, Fritz Sedlazeck, Michael C. Schatz
2018-06-01

Piercing the dark matter: bioinformatics of long-range sequencing and mapping

Fritz Sedlazeck, Hayan Lee, Charlotte A Darby
2018-03-27

A Sequel to Sanger: amplicon sequencing that scales.

Daniel H. Janzen, Winnie Hallwachs, Paul D. N. Hebert, Jeremy R. deWaard, Jayme E Sones, Eugeny Zakharov, Sujeevan Ratnasingham, Sean W J Prosser
2018-01-29

Nanopore sequencing and assembly of a human genome with ultra-long reads

Justin O'Grady, Aaron R Quinlan, Matthew Loose, Miten Jain, Thomas A Sasani, Andrew Beggs, Alexander Dilthey, Arang Rhie, Adam Phillippy, Karen H Miga, Sergey Koren
2018-01-01

Ensembl 2018

Sophie H Janacek, Jane E Loveland, Sarah E. Hunt, Daniel R Zerbino, Premanand Achuthan, Wasiu Akanni, Jyothish Bhai, Konstantinos Billis, Carla A Cummins, Astrid Gall, Laurent Gil, Leanne Haggerty, Erin Haskell, Thibaut Hourlier, Osagie G Izuogu, Thomas Juettemann, Matthew R Laird, Ilias Lavidas, Thomas Maurel, Benjamin Moore, Jonathan M Mudge, Michael Nuhn, Denye Ogeh, Chuang Kee Ong, Mateus Patricio, Helen Schuilenburg, Dan Sheppard, Kieron Taylor, Anja Thormann, Alessandro Vullo, Brandon Walts, Myrto Kostadima, Nicholas Langridge, Fergal J Martin, Matthieu Muffato, Emily Pritchard, Magali Ruffier, Daniel M Staines, Stephen Trevanion, Fiona Cunningham, Andrew D Yates, Paul Flicek, William M McLaren, Daniel N Murphy, M Ridwan Amode, Harpreet Singh Riat, Helen Sparrow, Daniel Barrell, Bronwen Aken, Carlos García Girón, Adam Frankish
2017-11-06

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Joep de Ligt, Daniela Giachino, Jose Espejo Valle-Inclan, Edwin Cuppen, Michael E. Talkowski, Tobias Marschall
2017-04-10

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

Sean D. McGrath, Kerstin Howe, Terence D. Murphy, Kim D. Pruitt, William Chow, Tim Hubbard, Glen Threadgold, James Torrance, Laura Clarke, Sergey Koren, Heng Li, Adam Phillippy, Paul Flicek, Deanna M. Church, Evan E. Eichler, Richard M. Durbin, Chen-Shan Chin, Milinn Kremitzki, Tina A Graves-Lindsay, Paul Peluso, Francoise Thibaud-Nissen
2017-03-15

Canu: scalable and accurate long-read assembly via adaptive k-mer weighting and repeat separation

Jason R. Miller, Sergey Koren, Adam Phillippy, Brian P Walenz, Nicholas H. Bergman
2017-01-24

Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast

Christophe Dessimoz, Jürg Bähler, Doug Speed, Fritz Sedlazeck, Daniel C. Jeffares, François Balloux, Liam Shaw
2016-10-17

Phased diploid genome assembly with single-molecule real-time sequencing

Chen-Shan Chin, Fritz Sedlazeck, Christopher Dunn, Grant Cramer, Joseph R. Ecker, Dario Cantu
2016-10-05

De novo assembly and phasing of a Korean human genome.

Michael W. Hunkapiller
2016-06-07

Extensive sequencing of seven human genomes to characterize benchmark reference materials

George M. Church, Robert Sebra, Jason Bobe, Gintaras Deikus, Christopher E. Mason, Eric E Schadt, Stephen T Sherry, Yutao Fu, Mark J P Chaisson
2016-05-26

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Kristin K McDonald, Matthew S Lebo, Diana Mandelker, Ryan J Schmidt, Himanshu Sharma, Elizabeth Hynes, Avni Santani
2016-01-27

The IPD-IMGT/HLA Database - New developments in reporting HLA variation

James Robinson, James D Hayhurst, Steven G. E. Marsh
2015-12-08

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

Richard J Shaw, Anthony J Cox, Christopher T Saunders
2015-10-01

A global reference for human genetic variation

Adam Auton, Shane McCarthy, Richard M. Durbin, 1000 Genomes Project
2015-06-09

BUSCO: assessing genome assembly and annotation completeness with single-copy orthologs

Robert M. Waterhouse, Panagiotis Ioannidis
2015-02-06

WhatsHap: Weighted Haplotype Assembly for Future-Generation Sequencing Reads

Tobias Marschall, Nadia Pisanti, Gunnar W Klau, Leo van Iersel, Leen Stougie
2015-01-29

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

Evan E. Eichler, Fereydoun Hormozdiari, Jonas Korlach, Matthew Boitano, Francesca Antonacci, Peter H Sudmant, Richard Sandstrom, John Stamatoyannopoulos, Michael W. Hunkapiller, Maika Malig, John Huddleston, Mark J P Chaisson
2014-09-08

BEDTools: The Swiss-Army Tool for Genome Feature Analysis.

Aaron R Quinlan
2014-09-24

A first look at the Oxford Nanopore MinION sequencer

Article - wd:Q92578644

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