S
Sebastian Schoenherr
Researcher at Innsbruck Medical University
Publications - 19
Citations - 6909
Sebastian Schoenherr is an academic researcher from Innsbruck Medical University. The author has contributed to research in topics: Imputation (genetics) & Founder effect. The author has an hindex of 10, co-authored 18 publications receiving 4252 citations. Previous affiliations of Sebastian Schoenherr include University of Santiago de Compostela & University of Innsbruck.
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Journal ArticleDOI
A reference panel of 64,976 haplotypes for genotype imputation
Shane A. McCarthy,Sayantan Das,Warren W. Kretzschmar,Olivier Delaneau,Andrew R. Wood,Alexander Teumer,Hyun Min Kang,Christian Fuchsberger,Petr Danecek,Kevin Sharp,Yang Luo,C Sidore,Alan Kwong,Nicholas J. Timpson,Seppo Koskinen,Scott I. Vrieze,Laura J. Scott,He Zhang,Anubha Mahajan,Jan H. Veldink,Ulrike Peters,Ulrike Peters,Carlos N. Pato,Cornelia M. van Duijn,Christopher E. Gillies,Ilaria Gandin,Massimo Mezzavilla,Arthur Gilly,Massimiliano Cocca,Michela Traglia,Andrea Angius,Jeffrey C. Barrett,D.I. Boomsma,Kari Branham,Gerome Breen,Gerome Breen,Chad M. Brummett,Fabio Busonero,Harry Campbell,Andrew T. Chan,Sai Chen,Emily Y. Chew,Francis S. Collins,Laura J Corbin,George Davey Smith,George Dedoussis,Marcus Dörr,Aliki-Eleni Farmaki,Luigi Ferrucci,Lukas Forer,Ross M. Fraser,Stacey Gabriel,Shawn Levy,Leif Groop,Leif Groop,Tabitha A. Harrison,Andrew T. Hattersley,Oddgeir L. Holmen,Kristian Hveem,Matthias Kretzler,James Lee,Matt McGue,Thomas Meitinger,David Melzer,Josine L. Min,Karen L. Mohlke,John B. Vincent,Matthias Nauck,Deborah A. Nickerson,Aarno Palotie,Aarno Palotie,Michele T. Pato,Nicola Pirastu,Melvin G. McInnis,J. Brent Richards,J. Brent Richards,Cinzia Sala,Veikko Salomaa,David Schlessinger,Sebastian Schoenherr,P. Eline Slagboom,Kerrin S. Small,Tim D. Spector,Dwight Stambolian,Marcus A. Tuke,Jaakko Tuomilehto,Leonard H. van den Berg,Wouter van Rheenen,Uwe Völker,Cisca Wijmenga,Daniela Toniolo,Eleftheria Zeggini,Paolo Gasparini,Matthew G. Sampson,James F. Wilson,Timothy M. Frayling,Paul I.W. de Bakker,Morris A. Swertz,Steven A. McCarroll,Charles Kooperberg,Annelot M. Dekker,David Altshuler,Cristen J. Willer,William G. Iacono,Samuli Ripatti,Nicole Soranzo,Nicole Soranzo,Klaudia Walter,Anand Swaroop,Francesco Cucca,Carl A. Anderson,Richard M. Myers,Michael Boehnke,Mark I. McCarthy,Mark I. McCarthy,Richard Durbin,Gonçalo R. Abecasis,Jonathan Marchini +117 more
TL;DR: A reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies.
A reference panel of 64,976 haplotypes for genotype imputation
Shane A. McCarthy,Sayantan Das,Warren W. Kretzschmar,Olivier Delaneau,Andrew R. Wood,Alexander Teumer,Hyun Min Kang,Christian Fuchsberger,Petr Danecek,Kevin Sharp,Yang Luo,Carlo Sidorel,Alan Kwong,Nicholas J. Timpson,Seppo Koskinen,Scott I. Vrieze,Laura J. Scott,He Zhang,Anubha Mahajan,Jan H. Veldink,Ulrike Peters,Carlos N. Pato,Cornelia M. van Duijn,Christopher E. Gillies,Ilaria Gandin,Massimo Mezzavilla,Arthur Gilly,Massimiliano Cocca,Michela Traglia,Andrea Angius,Jeffrey C. Barrett,D.I. Boomsma,Kari Branham,Gerome Breen,Chad M. Brummett,Fabio Busonero,Harry Campbell,Andrew T. Chan,Sai Che,Emily Y. Chew,Francis S. Collins,Laura J Corbin,George Davey Smith,George Dedoussis,Marcus Dörr,Aliki-Eleni Farmaki,Luigi Ferrucci,Lukas Forer,Ross M. Fraser,Stacey Gabriel,Shawn Levy,Leif Groop,Tabitha A. Harrison,Andrew T. Hattersley,Oddgeir L. Holmen,Kristian Hveem,Matthias Kretzler,James Lee,Matt McGue,Thomas Meitinger,David Melzer,Josine L. Min,Karen L. Mohlke,John B. Vincent,Matthias Nauck,Deborah A. Nickerson,Aarno Palotie,Michele T. Pato,Nicola Pirastu,Melvin G. McInnis,J. Brent Richards,Cinzia Sala,Veikko Salomaa,David Schlessinger,Sebastian Schoenherr,P. Eline Slagboom,Kerrin S. Small,Tim D. Spector,Dwight Stambolian,Marcus A. Tuke,Jaakko Tuomilehto,Leonard H. van den Berg,Wouter van Rheenen,Uwe Völker,Cisca Wijmenga,Daniela Toniolo,Eleftheria Zeggini,Paolo Gasparini,Matthew G. Sampson,James F. Wilson,Timothy M. Frayling,Paul I.W. de Bakker,Morris A. Swertz,Steven A. McCarroll,Charles Kooperberg,Annelot M. Dekker,David Altshuler,Cristen J. Willer,William G. Iacono,Samuli Ripatti,Nicole Soranzo,Klaudia Walter,Anand Swaroop,Francesco Cucca,Carl A. Anderson,Richard M. Myers,Michael Boehnke,Mark I. McCarthy,Richard Durbin,Gonçalo R. Abecasis,Jonathan Marchini +110 more
TL;DR: In this article, a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry is presented.
Journal ArticleDOI
Reference-based phasing using the Haplotype Reference Consortium panel.
Po-Ru Loh,Po-Ru Loh,Petr Danecek,Pier Francesco Palamara,Pier Francesco Palamara,Christian Fuchsberger,Christian Fuchsberger,Yakir A. Reshef,Hilary K. Finucane,Hilary K. Finucane,Sebastian Schoenherr,Lukas Forer,Shane A. McCarthy,Gonçalo R. Abecasis,Richard Durbin,Alkes L. Price,Alkes L. Price +16 more
TL;DR: A new phasing algorithm, Eagle2, is introduced that attains high accuracy across a broad range of cohort sizes by efficiently leveraging information from large external reference panels (such as the Haplotype Reference Consortium; HRC) using a new data structure based on the positional Burrows-Wheeler transform.
Journal ArticleDOI
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
Daniel Taliun,Daniel N. Harris,Michael D. Kessler,Jedidiah Carlson,Jedidiah Carlson,Zachary A. Szpiech,Raul Torres,Sarah A Gagliano Taliun,André Corvelo,Stephanie M. Gogarten,Hyun Min Kang,Achilleas N. Pitsillides,Jonathon LeFaive,Seung-been Lee,Xiaowen Tian,Brian L. Browning,Sayantan Das,Anne-Katrin Emde,Wayne E. Clarke,Douglas Loesch,Amol C. Shetty,Thomas W. Blackwell,Albert V. Smith,Quenna Wong,Xiaoming Liu,Matthew P. Conomos,Dean Bobo,François Aguet,Christine M. Albert,Alvaro Alonso,Kristin G. Ardlie,Dan E. Arking,Stella Aslibekyan,Paul L. Auer,John Barnard,R. Graham Barr,Lucas Barwick,Lewis C. Becker,Rebecca L. Beer,Emelia J. Benjamin,Lawrence F. Bielak,John Blangero,Michael Boehnke,Donald W. Bowden,Jennifer A. Brody,Esteban G. Burchard,Brian E. Cade,Brian E. Cade,James F. Casella,Brandon Chalazan,Daniel I. Chasman,Daniel I. Chasman,Yii-Der Ida Chen,Michael H. Cho,Seung Hoan Choi,Mina K. Chung,Mina K. Chung,Mina K. Chung,Clary B. Clish,Adolfo Correa,Joanne E. Curran,Brian Custer,Dawood Darbar,Michelle Daya,Mariza de Andrade,Dawn L. DeMeo,Susan K. Dutcher,Patrick T. Ellinor,Leslie S. Emery,Celeste Eng,Diane Fatkin,Diane Fatkin,Diane Fatkin,Tasha E. Fingerlin,Lukas Forer,Myriam Fornage,Nora Franceschini,Christian Fuchsberger,Stephanie M. Fullerton,Soren Germer,Mark T. Gladwin,Daniel J. Gottlieb,Daniel J. Gottlieb,Xiuqing Guo,Michael E. Hall,Jiang He,Nancy L. Heard-Costa,Susan R. Heckbert,Marguerite R. Irvin,Jill M. Johnsen,Andrew D. Johnson,Robert C. Kaplan,Sharon L.R. Kardia,Tanika N. Kelly,Shannon Kelly,Eimear E. Kenny,Douglas P. Kiel,Robert Klemmer,Barbara A. Konkle,Charles Kooperberg,Anna Köttgen,Anna Köttgen,Leslie A. Lange,Jessica Lasky-Su,Daniel Levy,Daniel Levy,Xihong Lin,Keng-Han Lin,Chunyu Liu,Ruth J. F. Loos,Lori Garman,Robert E. Gerszten,Steven A. Lubitz,Kathryn L. Lunetta,Angel C.Y. Mak,Ani Manichaikul,Alisa K. Manning,Alisa K. Manning,Rasika A. Mathias,David D. McManus,Stephen T. McGarvey,James B. Meigs,Deborah A. Meyers,Julie L. Mikulla,Mollie A. Minear,Braxton D. Mitchell,Braxton D. Mitchell,Sanghamitra Mohanty,May E. Montasser,Courtney G. Montgomery,Alanna C. Morrison,Joanne M. Murabito,Andrea Natale,Pradeep Natarajan,Sarah C. Nelson,Kari E. North,Jeffrey R. O'Connell,Nicholette D. Palmer,Nathan Pankratz,Gina M. Peloso,Patricia A. Peyser,Jacob Pleiness,Wendy S. Post,Bruce M. Psaty,D. C. Rao,Susan Redline,Susan Redline,Alexander P. Reiner,Alexander P. Reiner,Dan M. Roden,Jerome I. Rotter,Ingo Ruczinski,Chloé Sarnowski,Sebastian Schoenherr,David A. Schwartz,Jeong-Sun Seo,Sudha Seshadri,Vivien A. Sheehan,Wayne Huey-Herng Sheu,M. Benjamin Shoemaker,Nicholas L. Smith,Nicholas L. Smith,Nicholas L. Smith,Jennifer A. Smith,Nona Sotoodehnia,Adrienne M. Stilp,Weihong Tang,Kent D. Taylor,Marilyn J. Telen,Timothy A. Thornton,Russell P. Tracy,David Van Den Berg,Ramachandran S. Vasan,Karine A. Viaud-Martinez,Scott I. Vrieze,Daniel E. Weeks,Bruce S. Weir,Scott T. Weiss,Lu-Chen Weng,Cristen J. Willer,Yingze Zhang,Xutong Zhao,Donna K. Arnett,Allison E. Ashley-Koch,Kathleen C. Barnes,Eric Boerwinkle,Eric Boerwinkle,Stacey Gabriel,Richard A. Gibbs,Kenneth Rice,Stephen S. Rich,Edwin K. Silverman,Pankaj Qasba,Weiniu Gan,George J. Papanicolaou,Deborah A. Nickerson,Sharon R. Browning,Michael C. Zody,Sebastian Zöllner,James G. Wilson,L. Adrienne Cupples,Cathy C. Laurie,Cashell E. Jaquish,Ryan D. Hernandez,Timothy D. O’Connor,Gonçalo R. Abecasis +205 more
TL;DR: The Trans-Omics for Precision Medicine (TOPMed) project as discussed by the authors aims to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases.
Posted ContentDOI
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Daniel Taliun,Daniel N. Harris,Michael D. Kessler,Jedidiah Carlson,Jedidiah Carlson,Zachary A. Szpiech,Zachary A. Szpiech,Raul Torres,Sarah A Gagliano Taliun,André Corvelo,Stephanie M. Gogarten,Hyun Min Kang,Achilleas N. Pitsillides,Jonathon LeFaive,Seung-been Lee,Xiaowen Tian,Brian L. Browning,Sayantan Das,Anne-Katrin Emde,Wayne E. Clarke,Douglas Loesch,Amol C. Shetty,Thomas W. Blackwell,Quenna Wong,François Aguet,Christine M. Albert,Alvaro Alonso,Kristin G. Ardlie,Stella Aslibekyan,Paul L. Auer,John Barnard,R. Graham Barr,R. Graham Barr,Lewis C. Becker,Rebecca L. Beer,Emelia J. Benjamin,Lawrence F. Bielak,John Blangero,Michael Boehnke,Donald W. Bowden,Jennifer A. Brody,Esteban G. Burchard,Brian E. Cade,Brian E. Cade,James F. Casella,Brandon Chalazan,Yii-Der Ida Chen,Michael H. Cho,Seung Hoan Choi,Mina K. Chung,Mina K. Chung,Mina K. Chung,Clary B. Clish,Adolfo Correa,Joanne E. Curran,Brian Custer,Dawood Darbar,Michelle Daya,Mariza de Andrade,Dawn L. DeMeo,Susan K. Dutcher,Patrick T. Ellinor,Leslie S. Emery,Diane Fatkin,Diane Fatkin,Diane Fatkin,Lukas Forer,Myriam Fornage,Nora Franceschini,Christian Fuchsberger,Stephanie M. Fullerton,Soren Germer,Mark T. Gladwin,Daniel J. Gottlieb,Daniel J. Gottlieb,Xiuqing Guo,Michael E. Hall,Jiang He,Nancy L. Heard-Costa,Susan R. Heckbert,Marguerite R. Irvin,Jill M. Johnsen,Andrew D. Johnson,Sharon L.R. Kardia,Tanika N. Kelly,Shannon Kelly,Eimear E. Kenny,Douglas P. Kiel,Douglas P. Kiel,Robert Klemmer,Barbara A. Konkle,Charles Kooperberg,Anna Köttgen,Anna Köttgen,Leslie A. Lange,Jessica Lasky-Su,Daniel Levy,Daniel Levy,Xihong Lin,Keng-Han Lin,Chunyu Liu,Ruth J. F. Loos,Lori Garman,Robert E. Gerszten,Steven A. Lubitz,Kathryn L. Lunetta,Angel C.Y. Mak,Ani Manichaikul,Alisa K. Manning,Alisa K. Manning,Rasika A. Mathias,David D. McManus,Stephen T. McGarvey,James B. Meigs,Deborah A. Meyers,Julie L. Mikulla,Mollie A. Minear,Braxton D. Mitchell,Braxton D. Mitchell,Sanghamitra Mohanty,May E. Montasser,Courtney G. Montgomery,Alanna C. Morrison,Joanne M. Murabito,Andrea Natale,Pradeep Natarajan,Sarah C. Nelson,Kari E. North,Jeffrey R. O'Connell,Nicholette D. Palmer,Nathan Pankratz,Gina M. Peloso,Patricia A. Peyser,Wendy S. Post,Bruce M. Psaty,D. C. Rao,Susan Redline,Susan Redline,Alexander P. Reiner,Alexander P. Reiner,Dan M. Roden,Jerome I. Rotter,Ingo Ruczinski,Chloé Sarnowski,Sebastian Schoenherr,Jeong-Sun Seo,Sudha Seshadri,Vivien A. Sheehan,M. Benjamin Shoemaker,Albert V. Smith,Nicholas L. Smith,Jennifer A. Smith,Nona Sotoodehnia,Adrienne M. Stilp,Weihong Tang,Kent D. Taylor,Marilyn J. Telen,Timothy A. Thornton,Russell P. Tracy,David Van Den Berg,Ramachandran S. Vasan,Karine A. Viaud-Martinez,Scott I. Vrieze,Daniel E. Weeks,Bruce S. Weir,Scott T. Weiss,Lu-Chen Weng,Cristen J. Willer,Yingze Zhang,Xutong Zhao,Donna K. Arnett,Allison E. Ashley-Koch,Kathleen C. Barnes,Eric Boerwinkle,Eric Boerwinkle,Stacey Gabriel,Richard A. Gibbs,Kenneth Rice,Stephen S. Rich,Edwin K. Silverman,Pankaj Qasba,Weiniu Gan,George J. Papanicolaou,Deborah A. Nickerson,Sharon R. Browning,Michael C. Zody,Sebastian Zöllner,James G. Wilson,L. Adrienne Cupples,Cathy C. Laurie,Cashell E. Jaquish,Ryan D. Hernandez,Ryan D. Hernandez,Timothy D. O’Connor,Gonçalo R. Abecasis +194 more
TL;DR: The nearly complete catalog of genetic variation in TOPMed studies provides unique opportunities for exploring the contributions of rare and non-coding sequence variants to phenotypic variation as well as resources and early insights from the sequence data.