Publications by authors named "Arvis Sulovari"

20Publications

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads.

Authors:
David Porubsky Peter Ebert Peter A Audano Mitchell R Vollger William T Harvey Pierre Marijon Jana Ebler Katherine M Munson Melanie Sorensen Arvis Sulovari Marina Haukness Maryam Ghareghani Peter M Lansdorp Benedict Paten Scott E Devine Ashley D Sanders Charles Lee Mark J P Chaisson Jan O Korbel Evan E Eichler Tobias Marschall

Nat Biotechnol 2020 Dec 7. Epub 2020 Dec 7.

Heinrich Heine University Düsseldorf, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Düsseldorf, Germany.

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December 2020

Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution.

Authors:
Flavia Angela Maria Maggiolini Ashley D Sanders Colin James Shew Arvis Sulovari Yafei Mao Marta Puig Claudia Rita Catacchio Maria Dellino Donato Palmisano Ludovica Mercuri Miriana Bitonto David Porubský Mario Cáceres Evan E Eichler Mario Ventura Megan Y Dennis Jan O Korbel Francesca Antonacci

Genome Res 2020 Nov 22;30(11):1680-1693. Epub 2020 Oct 22.

Dipartimento di Biologia, Università degli Studi di Bari "Aldo Moro," Bari 70125, Italy.

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November 2020

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Authors:
Tianyun Wang Kendra Hoekzema Davide Vecchio Huidan Wu Arvis Sulovari Bradley P Coe Madelyn A Gillentine Amy B Wilfert Luis A Perez-Jurado Malin Kvarnung Yoeri Sleyp Rachel K Earl Jill A Rosenfeld Madeleine R Geisheker Lin Han Bing Du Chris Barnett Elizabeth Thompson Marie Shaw Renee Carroll Kathryn Friend Rachael Catford Elizabeth E Palmer Xiaobing Zou Jianjun Ou Honghui Li Hui Guo Jennifer Gerdts Emanuela Avola Giuseppe Calabrese Maurizio Elia Donatella Greco Anna Lindstrand Ann Nordgren Britt-Marie Anderlid Geert Vandeweyer Anke Van Dijck Nathalie Van der Aa Brooke McKenna Miroslava Hancarova Sarka Bendova Marketa Havlovicova Giovanni Malerba Bernardo Dalla Bernardina Pierandrea Muglia Arie van Haeringen Mariette J V Hoffer Barbara Franke Gerarda Cappuccio Martin Delatycki Paul J Lockhart Melanie A Manning Pengfei Liu Ingrid E Scheffer Nicola Brunetti-Pierri Nanda Rommelse David G Amaral Gijs W E Santen Elisabetta Trabetti Zdeněk Sedláček Jacob J Michaelson Karen Pierce Eric Courchesne R Frank Kooy Magnus Nordenskjöld Corrado Romano Hilde Peeters Raphael A Bernier Jozef Gecz Kun Xia Evan E Eichler

Nat Commun 2020 Oct 21;11(1):5398. Epub 2020 Oct 21.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

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October 2020

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Authors:
Tianyun Wang Kendra Hoekzema Davide Vecchio Huidan Wu Arvis Sulovari Bradley P Coe Madelyn A Gillentine Amy B Wilfert Luis A Perez-Jurado Malin Kvarnung Yoeri Sleyp Rachel K Earl Jill A Rosenfeld Madeleine R Geisheker Lin Han Bing Du Chris Barnett Elizabeth Thompson Marie Shaw Renee Carroll Kathryn Friend Rachael Catford Elizabeth E Palmer Xiaobing Zou Jianjun Ou Honghui Li Hui Guo Jennifer Gerdts Emanuela Avola Giuseppe Calabrese Maurizio Elia Donatella Greco Anna Lindstrand Ann Nordgren Britt-Marie Anderlid Geert Vandeweyer Anke Van Dijck Nathalie Van der Aa Brooke McKenna Miroslava Hancarova Sarka Bendova Marketa Havlovicova Giovanni Malerba Bernardo Dalla Bernardina Pierandrea Muglia Arie van Haeringen Mariette J V Hoffer Barbara Franke Gerarda Cappuccio Martin Delatycki Paul J Lockhart Melanie A Manning Pengfei Liu Ingrid E Scheffer Nicola Brunetti-Pierri Nanda Rommelse David G Amaral Gijs W E Santen Elisabetta Trabetti Zdeněk Sedláček Jacob J Michaelson Karen Pierce Eric Courchesne R Frank Kooy Magnus Nordenskjöld Corrado Romano Hilde Peeters Raphael A Bernier Jozef Gecz Kun Xia Evan E Eichler

Nat Commun 2020 10 1;11(1):4932. Epub 2020 Oct 1.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

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October 2020

An evolutionary driver of interspersed segmental duplications in primates.

Authors:
Stuart Cantsilieris Susan M Sunkin Matthew E Johnson Fabio Anaclerio John Huddleston Carl Baker Max L Dougherty Jason G Underwood Arvis Sulovari PingHsun Hsieh Yafei Mao Claudia Rita Catacchio Maika Malig AnneMarie E Welch Melanie Sorensen Katherine M Munson Weihong Jiang Santhosh Girirajan Mario Ventura Bruce T Lamb Ronald A Conlon Evan E Eichler

Genome Biol 2020 08 10;21(1):202. Epub 2020 Aug 10.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.

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August 2020

Evolution of a Human-Specific Tandem Repeat Associated with ALS.

Authors:
Meredith M Course Kathryn Gudsnuk Samuel N Smukowski Kosuke Winston Nitin Desai Jay P Ross Arvis Sulovari Cynthia V Bourassa Dan Spiegelman Julien Couthouis Chang-En Yu Debby W Tsuang Suman Jayadev Mark A Kay Aaron D Gitler Nicolas Dupre Evan E Eichler Patrick A Dion Guy A Rouleau Paul N Valdmanis

Am J Hum Genet 2020 09 3;107(3):445-460. Epub 2020 Aug 3.

Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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September 2020

Recurrent inversion toggling and great ape genome evolution.

Authors:
David Porubsky Ashley D Sanders Wolfram Höps PingHsun Hsieh Arvis Sulovari Ruiyang Li Ludovica Mercuri Melanie Sorensen Shwetha C Murali David Gordon Stuart Cantsilieris Alex A Pollen Mario Ventura Francesca Antonacci Tobias Marschall Jan O Korbel Evan E Eichler

Nat Genet 2020 08 15;52(8):849-858. Epub 2020 Jun 15.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

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August 2020

Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.

Authors:
Mitchell R Vollger Glennis A Logsdon Peter A Audano Arvis Sulovari David Porubsky Paul Peluso Aaron M Wenger Gregory T Concepcion Zev N Kronenberg Katherine M Munson Carl Baker Ashley D Sanders Diana C J Spierings Peter M Lansdorp Urvashi Surti Michael W Hunkapiller Evan E Eichler

Ann Hum Genet 2020 03 11;84(2):125-140. Epub 2019 Nov 11.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington.

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March 2020

Human-specific tandem repeat expansion and differential gene expression during primate evolution.

Authors:
Arvis Sulovari Ruiyang Li Peter A Audano David Porubsky Mitchell R Vollger Glennis A Logsdon Wesley C Warren Alex A Pollen Mark J P Chaisson Evan E Eichler

Proc Natl Acad Sci U S A 2019 11 28;116(46):23243-23253. Epub 2019 Oct 28.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195;

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November 2019

A virome-wide clonal integration analysis platform for discovering cancer viral etiology.

Authors:
Xun Chen Jason Kost Arvis Sulovari Nathalie Wong Winnie S Liang Jian Cao Dawei Li

Genome Res 2019 05 14;29(5):819-830. Epub 2019 Mar 14.

Department of Microbiology and Molecular Genetics, University of Vermont, Burlington, Vermont 05405, USA.

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May 2019

VIpower: Simulation-based tool for estimating power of viral integration detection via high-throughput sequencing.

Authors:
Arvis Sulovari Dawei Li

Genomics 2020 01 30;112(1):207-211. Epub 2019 Jan 30.

Department of Microbiology and Molecular Genetics, University of Vermont, Burlington, VT 05405, USA; Department of Computer Science, University of Vermont, Burlington, VT 05405, USA; Neuroscience, Behavior, and Health Initiative, University of Vermont, Burlington, VT 05405, USA. Electronic address:

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January 2020

Characterizing the Major Structural Variant Alleles of the Human Genome.

Authors:
Peter A Audano Arvis Sulovari Tina A Graves-Lindsay Stuart Cantsilieris Melanie Sorensen AnneMarie E Welch Max L Dougherty Bradley J Nelson Ankeeta Shah Susan K Dutcher Wesley C Warren Vincent Magrini Sean D McGrath Yang I Li Richard K Wilson Evan E Eichler

Cell 2019 01 17;176(3):663-675.e19. Epub 2019 Jan 17.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. Electronic address:

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January 2019

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.

Authors:
Bradley P Coe Holly A F Stessman Arvis Sulovari Madeleine R Geisheker Trygve E Bakken Allison M Lake Joseph D Dougherty Ed S Lein Fereydoun Hormozdiari Raphael A Bernier Evan E Eichler

Nat Genet 2019 01 17;51(1):106-116. Epub 2018 Dec 17.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

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January 2019

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.

Authors:
Amy B Wilfert Arvis Sulovari Tychele N Turner Bradley P Coe Evan E Eichler

Genome Med 2017 11 27;9(1):101. Epub 2017 Nov 27.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.

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November 2017

Paradoxical roles of dual oxidases in cancer biology.

Authors:
Andrew C Little Arvis Sulovari Karamatullah Danyal David E Heppner David J Seward Albert van der Vliet

Free Radic Biol Med 2017 09 31;110:117-132. Epub 2017 May 31.

Department of Pathology and Laboratory Medicine, Robert Larner, M.D. College of Medicine, University of Vermont, Burlington, VT 05405, United States; Cellular, Molecular, and Biomedical Sciences Graduate Program, University of Vermont, Burlington, VT 05405, United States. Electronic address:

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September 2017

Atlas of human diseases influenced by genetic variants with extreme allele frequency differences.

Authors:
Arvis Sulovari Yolanda H Chen James J Hudziak Dawei Li

Hum Genet 2017 01 3;136(1):39-54. Epub 2016 Oct 3.

Department of Microbiology and Molecular Genetics, University of Vermont, Burlington, VT, 05405, USA.

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January 2017

Further analyses support the association between light eye color and alcohol dependence.

Authors:
Arvis Sulovari Henry R Kranzler Lindsay A Farrer Joel Gelernter Dawei Li

Am J Med Genet B Neuropsychiatr Genet 2015 Dec 20;168(8):757-60. Epub 2015 Aug 20.

Department of Microbiology and Molecular Genetics, University of Vermont, Burlington, Vermont.

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December 2015

Eye color: A potential indicator of alcohol dependence risk in European Americans.

Authors:
Arvis Sulovari Henry R Kranzler Lindsay A Farrer Joel Gelernter Dawei Li

Am J Med Genet B Neuropsychiatr Genet 2015 Jul 29;168B(5):347-53. Epub 2015 Apr 29.

Department of Microbiology and Molecular Genetics, University of Vermont, Burlington, Vermont.

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July 2015

GACT: a Genome build and Allele definition Conversion Tool for SNP imputation and meta-analysis in genetic association studies.

Authors:
Arvis Sulovari Dawei Li

BMC Genomics 2014 Jul 19;15:610. Epub 2014 Jul 19.

Department of Microbiology and Molecular Genetics, University of Vermont, 05405 Burlington, VT, USA.

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July 2014

Association of gamma-aminobutyric acid A receptor α2 gene (GABRA2) with alcohol use disorder.

Authors:
Dawei Li Arvis Sulovari Chao Cheng Hongyu Zhao Henry R Kranzler Joel Gelernter

Neuropsychopharmacology 2014 Mar 18;39(4):907-18. Epub 2013 Oct 18.

1] Department of Psychiatry, School of Medicine, Yale University, New Haven, CT, USA [2] Department of Genetics, School of Medicine, Yale University, New Haven, CT, USA [3] VA Connecticut Healthcare Center, West Haven, CT, USA.

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March 2014