Discovery and genotyping of structural variation from long-read haploid genome sequence data
John Huddleston,Mark Chaisson,Karyn Meltz Steinberg,Wes Warren,Kendra Hoekzema,David Gordon,Tina A. Graves-Lindsay,Katherine M. Munson,Zev N. Kronenberg,Laura Vives,Paul Peluso,Matthew Boitano,Chen-Shin Chin,Jonas Korlach,Richard K. Wilson,Evan E. Eichler +15 more
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TLDR
Interestingly, when the authors repeat SV detection on a pseudodiploid genome constructed in silico by merging the two haploids, it is found that ∼59% of the heterozygous SVs are no longer detected by SMRT-SV, indicating that haploid resolution of long-read sequencing data will significantly increase sensitivity of SV detection.Abstract:
In an effort to more fully understand the full spectrum of human genetic variation, we generated deep single-molecule, real-time (SMRT) sequencing data from two haploid human genomes. By using an assembly-based approach (SMRT-SV), we systematically assessed each genome independently for structural variants (SVs) and indels resolving the sequence structure of 461,553 genetic variants from 2 bp to 28 kbp in length. We find that >89% of these variants have been missed as part of analysis of the 1000 Genomes Project even after adjusting for more common variants (MAF > 1%). We estimate that this theoretical human diploid differs by as much as ∼16 Mbp with respect to the human reference, with long-read sequencing data providing a fivefold increase in sensitivity for genetic variants ranging in size from 7 bp to 1 kbp compared with short-read sequence data. Although a large fraction of genetic variants were not detected by short-read approaches, once the alternate allele is sequence-resolved, we show that 61% of SVs can be genotyped in short-read sequence data sets with high accuracy. Uncoupling discovery from genotyping thus allows for the majority of this missed common variation to be genotyped in the human population. Interestingly, when we repeat SV detection on a pseudodiploid genome constructed in silico by merging the two haploids, we find that ∼59% of the heterozygous SVs are no longer detected by SMRT-SV. These results indicate that haploid resolution of long-read sequencing data will significantly increase sensitivity of SV detection.read more
Citations
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Journal ArticleDOI
Accurate detection of complex structural variations using single-molecule sequencing.
Fritz J. Sedlazeck,Philipp Rescheneder,Moritz Smolka,Han Fang,Maria Nattestad,Arndt von Haeseler,Arndt von Haeseler,Michael C. Schatz,Michael C. Schatz +8 more
TL;DR: NGMLR and Sniffles perform highly accurate alignment and structural variation detection from long-read sequencing data and can automatically filter false events and operate on low-coverage data, thereby reducing the high costs that have hindered the application of long reads in clinical and research settings.
Journal ArticleDOI
The complete sequence of a human genome
Sergey Koren,Sergey Nurk,Mikko Rautiainen,B Ren,Weijun Zhu,Richard Lawless,Саидмуродов Мамур Таирович +6 more
TL;DR: The T2T-CHM13-T2T Consortium presented a complete 3.055 billion-base pair sequence of a human genome, including gapless assemblies for all chromosomes except Y, corrected errors in the prior references, and introduced nearly 200 million base pairs of sequence containing gene predictions, 99 of which are predicted to be protein coding as discussed by the authors .
Journal ArticleDOI
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Mark Chaisson,Mark Chaisson,Ashley D. Sanders,Xuefang Zhao,Xuefang Zhao,Ankit Malhotra,David Porubsky,David Porubsky,Tobias Rausch,Eugene J. Gardner,Oscar L. Rodriguez,Li Guo,Ryan L. Collins,Xian Fan,Jia Wen,Robert E. Handsaker,Robert E. Handsaker,Susan Fairley,Zev N. Kronenberg,Xiangmeng Kong,Fereydoun Hormozdiari,Dillon Lee,Aaron M. Wenger,Alex Hastie,Danny Antaki,Thomas Anantharaman,Peter A. Audano,Harrison Brand,Stuart Cantsilieris,Han Cao,Eliza Cerveira,Chong Chen,Xintong Chen,Chen-Shan Chin,Zechen Chong,Nelson T. Chuang,Christine C. Lambert,Deanna M. Church,Laura Clarke,Andrew Farrell,Joey Flores,Timur R. Galeev,David U. Gorkin,David U. Gorkin,Madhusudan Gujral,Victor Guryev,William Haynes Heaton,Jonas Korlach,Sushant Kumar,Jee Young Kwon,Ernest T. Lam,Jong Eun Lee,Joyce V. Lee,Wan-Ping Lee,Sau Peng Lee,Shantao Li,Patrick Marks,Karine A. Viaud-Martinez,Sascha Meiers,Katherine M. Munson,Fabio C. P. Navarro,Bradley J. Nelson,Conor Nodzak,Amina Noor,Sofia Kyriazopoulou-Panagiotopoulou,Andy Wing Chun Pang,Yunjiang Qiu,Yunjiang Qiu,Gabriel Rosanio,Mallory Ryan,Adrian M. Stütz,Diana C.J. Spierings,Alistair Ward,Anne Marie E. Welch,Ming Xiao,Wei Xu,Chengsheng Zhang,Qihui Zhu,Xiangqun Zheng-Bradley,Ernesto Lowy,Sergei Yakneen,Steven A. McCarroll,Steven A. McCarroll,Goo Jun,Li Ding,Chong-Lek Koh,Bing Ren,Bing Ren,Paul Flicek,Ken Chen,Mark Gerstein,Pui-Yan Kwok,Peter M. Lansdorp,Peter M. Lansdorp,Peter M. Lansdorp,Gabor T. Marth,Jonathan Sebat,Xinghua Shi,Ali Bashir,Kai Ye,Scott E. Devine,Michael E. Talkowski,Michael E. Talkowski,Ryan E. Mills,Tobias Marschall,Jan O. Korbel,Evan E. Eichler,Charles Lee +107 more
TL;DR: A suite of long-read, short- read, strand-specific sequencing technologies, optical mapping, and variant discovery algorithms are applied to comprehensively analyze three trios to define the full spectrum of human genetic variation in a haplotype-resolved manner.
Journal ArticleDOI
Telomere-to-telomere assembly of a complete human X chromosome
Karen H. Miga,Sergey Koren,Arang Rhie,Mitchell R. Vollger,Ariel Gershman,Andrey Bzikadze,Shelise Brooks,Edmund Howe,David Porubsky,Glennis A. Logsdon,Valerie A. Schneider,Tamara A. Potapova,Jonathan Wood,William Chow,Joel Armstrong,Jeanne Fredrickson,Evgenia Pak,Kristof Tigyi,Milinn Kremitzki,Christopher Markovic,Valerie Maduro,Amalia Dutra,Gerard G. Bouffard,Alexander M. Chang,Nancy F. Hansen,Amy B. Wilfert,Françoise Thibaud-Nissen,Anthony D. Schmitt,Jon Matthew Belton,Siddarth Selvaraj,Megan Y. Dennis,Daniela C. Soto,Ruta Sahasrabudhe,Gulhan Kaya,Josh Quick,Nicholas J. Loman,Nadine Holmes,Matthew Loose,Urvashi Surti,Rosa Ana Risques,Tina A. Graves Lindsay,Robert S. Fulton,Ira M. Hall,Benedict Paten,Kerstin Howe,Winston Timp,Alice Young,James C. Mullikin,Pavel A. Pevzner,Jennifer L. Gerton,Beth A. Sullivan,Evan E. Eichler,Adam M. Phillippy +52 more
TL;DR: High-coverage, ultra-long-read nanopore sequencing is used to create a new human genome assembly that improves on the coverage and accuracy of the current reference (GRCh38) and includes the gap-free, telomere-to-telomere sequence of the X chromosome.
Journal ArticleDOI
A structural variation reference for medical and population genetics
Ryan L. Collins,Ryan L. Collins,Harrison Brand,Harrison Brand,Konrad J. Karczewski,Konrad J. Karczewski,Xuefang Zhao,Xuefang Zhao,Jessica Alföldi,Jessica Alföldi,Laurent C. Francioli,Laurent C. Francioli,Amit Khera,Amit Khera,Chelsea Lowther,Chelsea Lowther,Laura D. Gauthier,Harold Z. Wang,Harold Z. Wang,Nicholas A. Watts,Nicholas A. Watts,Matthew Solomonson,Matthew Solomonson,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Alexander Baumann,Ruchi Munshi,Mark Walker,Christopher W. Whelan,Yongqing Huang,Ted Brookings,Ted Sharpe,Matthew R. Stone,Matthew R. Stone,Elise Valkanas,Elise Valkanas,Jack Fu,Jack Fu,Grace Tiao,Grace Tiao,Kristen M. Laricchia,Kristen M. Laricchia,Valentin Ruano-Rubio,Christine Stevens,Namrata Gupta,Caroline N. Cusick,Lauren Margolin,Genome Aggregation Database Production Team,Kent D. Taylor,Henry J. Lin,Stephen S. Rich,Wendy S. Post,Yii-Der Ida Chen,Jerome I. Rotter,Chad Nusbaum,Anthony A. Philippakis,Eric S. Lander,Eric S. Lander,Eric S. Lander,Stacey Gabriel,Benjamin M. Neale,Sekar Kathiresan,Mark J. Daly,Eric Banks,Daniel G. MacArthur,Michael E. Talkowski +65 more
TL;DR: A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database (gnomAD) provides a reference map for disease-association studies, population genetics, and diagnostic screening.
References
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Grant,Carla Gallo,Giovanni Poletti,Danish Saleheen,Asif Rasheed,Lisa D. Brooks,Adam Felsenfeld,Jean E. McEwen,Yekaterina Vaydylevich,Audrey Duncanson,Michael Dunn,Jeffery A. Schloss +517 more
TL;DR: The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.
Journal ArticleDOI
The sequence of the human genome.
J. Craig Venter,Mark Raymond Adams,Eugene W. Myers,Peter W. Li,Richard J. Mural,Granger G. Sutton,Hamilton O. Smith,Mark Yandell,Cheryl A. Evans,Robert A. Holt,Jeannine D. Gocayne,Peter Amanatides,Richard M. Ballew,Daniel H. Huson,Jennifer R. Wortman,Qing Zhang,Chinnappa D. Kodira,Xiangqun H. Zheng,Lin Chen,Marian P. Skupski,Gangadharan Subramanian,Paul Thomas,Jinghui Zhang,George L. Gabor Miklos,Catherine R. Nelson,Samuel Broder,Andrew G. Clark,J. H. Nadeau,Victor A. McKusick,Norton D. Zinder,Arnold J. Levine,Richard J. Roberts,M. I. Simon,Carolyn W. Slayman,Michael W. Hunkapiller,Randall Bolanos,Arthur L. Delcher,Ian M. Dew,Daniel Fasulo,Michael Flanigan,Liliana Florea,Aaron L. Halpern,Sridhar Hannenhalli,Saul A. Kravitz,Samuel Levy,Clark M. Mobarry,Knut Reinert,Karin A. Remington,Jane Abu-Threideh,Ellen M. Beasley,Kendra Biddick,Vivien Bonazzi,Rhonda Brandon,Michele Cargill,Ishwar Chandramouliswaran,Rosane Charlab,Kabir Chaturvedi,Zuoming Deng,Valentina Di Francesco,Patrick Dunn,Karen Eilbeck,Carlos Evangelista,Andrei Gabrielian,Weiniu Gan,Wangmao Ge,Fangcheng Gong,Zhiping Gu,Ping Guan,Thomas J. Heiman,Maureen E. Higgins,Rui-Ru Ji,Zhaoxi Ke,Karen A. Ketchum,Zhongwu Lai,Yiding Lei,Zhenya Li,Jiayin Li,Yong Liang,Xiaoying Lin,Fu Lu,Gennady V. Merkulov,Natalia Milshina,Helen M. Moore,Ashwinikumar K Naik,Vaibhav A. Narayan,Beena Neelam,Deborah Nusskern,Douglas B. Rusch,Steven L. Salzberg,Wei Shao,Bixiong Chris Shue,Jingtao Sun,Zhen Yuan Wang,Aihui Wang,Xin Wang,Jian Wang,Ming-Hui Wei,Ron Wides,Chunlin Xiao,Chunhua Yan,Alison Yao,Jane Ye,Ming Zhan,Weiqing Zhang,Hongyu Zhang,Qi Zhao,Liansheng Zheng,Fei Zhong,Wenyan Zhong,Shiaoping C. Zhu,Shaying Zhao,Dennis A. Gilbert,Suzanna Baumhueter,Gene Spier,Christine Carter,Anibal Cravchik,Trevor Woodage,Feroze Ali,Huijin An,Aderonke Awe,Danita Baldwin,Holly Baden,Mary Barnstead,Ian Barrow,Karen Beeson,Dana A. Busam,Amy Carver,Ming Lai Cheng,Liz Curry,Steve Danaher,Lionel Davenport,Raymond Desilets,Susanne Dietz,Kristina Dodson,Lisa Doup,Steven Ferriera,Neha Garg,Andres Gluecksmann,Brit J. Hart,Jason Haynes,Charles Haynes,Cheryl Heiner,Suzanne Hladun,Damon Hostin,Jarrett Houck,Timothy Howland,Chinyere Ibegwam,Jeffery Johnson,Francis Kalush,Lesley Kline,Shashi Koduru,Amy Love,Felecia Mann,David May,Steven McCawley,Tina C. McIntosh,Ivy McMullen,Mee Moy,Linda Moy,Brian Murphy,Keith Nelson,Cynthia Pfannkoch,Eric Pratts,Vinita Puri,Hina Qureshi,Matthew Reardon,Robert Rodriguez,Yu-Hui Rogers,Deanna Romblad,Bob Ruhfel,Richard T. Scott,Cynthia Sitter,Michelle Smallwood,Erin Stewart,Renee Strong,Ellen Suh,Reginald Thomas,Ni Ni Tint,Sukyee Tse,Claire Vech,Gary Wang,Jeremy Wetter,Sherita Williams,Monica Williams,Sandra Windsor,Emily Winn-Deen,Keriellen Wolfe,Jayshree Zaveri,Karena Zaveri,Josep F. Abril,Roderic Guigó,Michael J. Campbell,Kimmen Sjölander,Brian Karlak,Anish Kejariwal,Huaiyu Mi,Betty Lazareva,Thomas Hatton,Apurva Narechania,Karen Diemer,Anushya Muruganujan,Nan Guo,Shinji Sato,Vineet Bafna,Sorin Istrail,Ross Lippert,Russell Schwartz,Brian P. Walenz,Shibu Yooseph,David Allen,Anand Basu,James Baxendale,Louis Blick,Marcelo Caminha,John Carnes-Stine,Parris Caulk,Yen-Hui Chiang,My Coyne,Carl Dahlke,Anne Deslattes Mays,Maria Dombroski,Michael Donnelly,Dale Ely,Shiva Esparham,Carl Fosler,Harold Gire,Stephen Glanowski,Kenneth Glasser,Anna Glodek,Mark Gorokhov,Ken Graham,Barry Gropman,Michael Harris,Jeremy Heil,Scott Henderson,Jeffrey Hoover,Donald Jennings,Catherine Jordan,James Jordan,John Kasha,Leonid Kagan,Cheryl L. Kraft,Alexander Levitsky,Mark Lewis,Xiangjun Liu,John Lopez,Daniel Ma,William H. Majoros,Joe McDaniel,Sean C. Murphy,Matthew Newman,Trung Hieu Nguyen,Ngoc Nguyen,Marc Nodell,Sue Pan,Jim Peck,Marshall Peterson,William Rowe,Robert Sanders,John Scott,Michael Simpson,Thomas J. Smith,Arlan Sprague,Timothy B. Stockwell,Russell Turner,Eli Venter,Mei Wang,Meiyuan Wen,David Wu,Mitchell Wu,Ashley Xia,Ali Zandieh,Xiaohong Zhu +272 more
TL;DR: Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems are indicated.
Journal ArticleDOI
BLAT—The BLAST-Like Alignment Tool
TL;DR: How BLAT was optimized is described, which is more accurate and 500 times faster than popular existing tools for mRNA/DNA alignments and 50 times faster for protein alignments at sensitivity settings typically used when comparing vertebrate sequences.
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An integrated encyclopedia of DNA elements in the human genome.
TL;DR: The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.
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