J
Jonathan M. Bloom
Researcher at Broad Institute
Publications - 19
Citations - 904
Jonathan M. Bloom is an academic researcher from Broad Institute. The author has contributed to research in topics: Genome-wide association study & Genome. The author has an hindex of 11, co-authored 19 publications receiving 603 citations. Previous affiliations of Jonathan M. Bloom include Harvard University.
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Journal ArticleDOI
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.
Pradeep Natarajan,Pradeep Natarajan,Gina M. Peloso,Seyedeh M. Zekavat,Seyedeh M. Zekavat,May E. Montasser,Andrea Ganna,Andrea Ganna,Mark Chaffin,Amit Khera,Amit Khera,Wei Zhou,Jonathan M. Bloom,Jonathan M. Bloom,Jesse M. Engreitz,Jesse M. Engreitz,Jason Ernst,Jeffrey R. O'Connell,Sanni Ruotsalainen,Maris Alver,Ani Manichaikul,W. Craig Johnson,James A. Perry,Timothy Poterba,Timothy Poterba,Cotton Seed,Cotton Seed,Ida Surakka,Tõnu Esko,Samuli Ripatti,Veikko Salomaa,Adolfo Correa,Ramachandran S. Vasan,Manolis Kellis,Manolis Kellis,Benjamin M. Neale,Eric S. Lander,Gonçalo R. Abecasis,Braxton D. Mitchell,Stephen S. Rich,James G. Wilson,L. Adrienne Cupples,Jerome I. Rotter,Cristen J. Willer,Sekar Kathiresan,Sekar Kathiresan +45 more
TL;DR: Large-scale deep-coverage whole-genome sequencing is now feasible and offers potential advantages for locus discovery and the incremental value of WGS for discovery is limited but WGS permits simultaneous assessment of monogenic and polygenic models to severe hypercholesterolemia.
Journal ArticleDOI
A synthetic-diploid benchmark for accurate variant-calling evaluation.
Heng Li,Jonathan M. Bloom,Yossi Farjoun,Mark Fleharty,Laura D. Gauthier,Benjamin M. Neale,Benjamin M. Neale,Daniel G. MacArthur,Daniel G. MacArthur +8 more
TL;DR: The synthetic-diploid (Syndip) benchmark dataset, constructed from two fully homozygous long-read assemblies, provides more accurate assessments of error rates in small-variant-calling algorithms than existing benchmarks.
Journal ArticleDOI
Delivering genes across the blood-brain barrier: LY6A, a novel cellular receptor for AAV-PHP.B capsids.
Qin Huang,Ken Y. Chan,Isabelle G. Tobey,Yujia Alina Chan,Tim Poterba,Christine L. Boutros,Alejandro B. Balazs,Richard Daneman,Jonathan M. Bloom,Cotton Seed,Benjamin E. Deverman +10 more
TL;DR: It is demonstrated that this newly discovered mode of AAV binding and transduction can occur independently of other known AAV receptors, and inform ongoing efforts to develop next-generation AAV vehicles for human CNS gene therapy.
Journal ArticleDOI
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
Andrea Ganna,Giulio Genovese,Giulio Genovese,Daniel P. Howrigan,Daniel P. Howrigan,Andrea Byrnes,Andrea Byrnes,Mitja I. Kurki,Seyedeh M. Zekavat,Seyedeh M. Zekavat,Christopher W. Whelan,Christopher W. Whelan,Mart Kals,Michel G. Nivard,Alex Bloemendal,Alex Bloemendal,Jonathan M. Bloom,Jonathan M. Bloom,Jacqueline I. Goldstein,Jacqueline I. Goldstein,Timothy Poterba,Timothy Poterba,Cotton Seed,Cotton Seed,Robert E. Handsaker,Robert E. Handsaker,Pradeep Natarajan,Pradeep Natarajan,Reedik Mägi,Diane Gage,Elise B. Robinson,Elise B. Robinson,Andres Metspalu,Veikko Salomaa,Jaana Suvisaari,Shaun Purcell,Pamela Sklar,Sekar Kathiresan,Sekar Kathiresan,Mark J. Daly,Mark J. Daly,Steven A. McCarroll,Steven A. McCarroll,Patrick F. Sullivan,Patrick F. Sullivan,Aarno Palotie,Aarno Palotie,Aarno Palotie,Tõnu Esko,Tõnu Esko,Christina M. Hultman,Benjamin M. Neale,Benjamin M. Neale +52 more
TL;DR: Disruptive, damaging ultra-rare variants in highly constrained genes are enriched in individuals with neurodevelopmental disorders and influence the determinants of YOE in the general population.
Journal ArticleDOI
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.
Seyedeh M. Zekavat,Seyedeh M. Zekavat,Sanni Ruotsalainen,Robert E. Handsaker,Robert E. Handsaker,Maris Alver,Jonathan M. Bloom,Tim Poterba,Cotton Seed,Jason Ernst,Mark Chaffin,Jesse M. Engreitz,Gina M. Peloso,Ani Manichaikul,Chaojie Yang,Kathleen A. Ryan,Mao Fu,W. Craig Johnson,Michael Y. Tsai,Matthew J. Budoff,Vasan S. Ramachandran,Vasan S. Ramachandran,L. Adrienne Cupples,L. Adrienne Cupples,Jerome I. Rotter,Stephen S. Rich,Wendy S. Post,Braxton D. Mitchell,Adolfo Correa,Andres Metspalu,James G. Wilson,Veikko Salomaa,Manolis Kellis,Manolis Kellis,Mark J. Daly,Benjamin M. Neale,Steven A. McCarroll,Steven A. McCarroll,Ida Surakka,Tõnu Esko,Andrea Ganna,Samuli Ripatti,Samuli Ripatti,Sekar Kathiresan,Sekar Kathiresan,Pradeep Natarajan,Pradeep Natarajan,Namiko Abe,Gonçalo R. Abecasis,Christine M. Albert,Nicholette Palmer Allred,Laura Almasy,Alvaro Alonso,Seth A. Ament,Peter C. Anderson,Pramod Anugu,Deborah Applebaum-Bowden,Dan E. Arking,Donna K. Arnett,Allison E. Ashley-Koch,Stella Aslibekyan,Tim Assimes,Paul L. Auer,Dimitrios Avramopoulos,John Barnard,Kathleen C. Barnes,R. Graham Barr,Emily Barron-Casella,Terri H. Beaty,Diane M. Becker,Lewis C. Becker,Rebecca L. Beer,Ferdouse Begum,Amber L. Beitelshees,Emelia J. Benjamin,Emelia J. Benjamin,Marcos Bezerra,L.F. Bielak,Joshua C. Bis,Thomas W. Blackwell,John Blangero,Eric Boerwinkle,Ingrid B. Borecki,Russell P. Bowler,Jennifer A. Brody,Ulrich Broeckel,Jai G. Broome,Karen Bunting,Esteban G. Burchard,Jonathan Cardwell,Cara L. Carty,Richard Casaburi,James F. Casella,Christy Chang,Daniel I. Chasman,Sameer Chavan,Bo Juen Chen,Wei-Min Chen,Yii-Der Ida Chen,Michael H. Cho,Seung Hoan Choi,Lee-Ming Chuang,Mina K. Chung,Elaine Cornell,Carolyn J. Crandall,James D. Crapo,Joanne E. Curran,Jeffrey L. Curtis,Brian Custer,Coleen M. Damcott,Dawood Darbar,Sayantan Das,Sean P. David,Colleen Davis,Michelle Daya,Mariza de Andrade,Michael R. DeBaun,Ranjan Deka,Dawn L. DeMeo,Scott E. Devine,Ron Do,Qing Duan,Ravi Duggirala,Peter Durda,Susan K. Dutcher,Charles B. Eaton,Lynette Ekunwe,Patrick T. Ellinor,Leslie S. Emery,Charles R. Farber,Leanna Farnam,Tasha E. Fingerlin,Matthew Flickinger,Myriam Fornage,Nora Franceschini,Stephanie M. Fullerton,Lucinda Fulton,Stacey Gabriel,Weiniu Gan,Yan Gao,Margery Gass,Bruce D. Gelb,Xiaoqi Geng,Soren Germer,Christopher R. Gignoux,Mark T. Gladwin,David C. Glahn,Stephanie M. Gogarten,Da Wei Gong,Harald H H Göring,C. Charles Gu,Yue Guan,Xiuqing Guo,Jeffrey Haessler,Michael E. Hall,Daniel N. Harris,Nicola L. Hawley,Jiang He,Ben Heavner,Susan R. Heckbert,Ryan D. Hernandez,David M. Herrington,Craig P. Hersh,Bertha Hidalgo,James E. Hixson,John E. Hokanson,Elliott Hong,Karin F. Hoth,Chao Hsiung,Haley Huston,Chii Min Hwu,Marguerite R. Irvin,Rebecca D. Jackson,Deepti Jain,Cashell E. Jaquish,Min A. Jhun,Jill M. Johnsen,Andrew D. Johnson,Rich Johnston,Kimberly L. Jones,Hyun Min Kang,Robert C. Kaplan,Sharon L.R. Kardia,Laura J. Kaufman,Shannon Kelly,Eimear E. Kenny,Michael D. Kessler,Alyna T. Khan,G.L. Kinney,Barbara A. Konkle,Charles Kooperberg,Holly Kramer,Stephanie Krauter,Christoph Lange,Ethan M. Lange,Leslie A. Lange,Cathy C. Laurie,Cecelia A. Laurie,Meryl S. LeBoff,Seunggeun Lee,Wen Jane Lee,Jonathon LeFaive,David K. Levine,Daniel Levy,Joshua P. Lewis,Yun Li,Honghuang Lin,Keng-Han Lin,Simin Liu,Yongmei Liu,Ruth J. F. Loos,Steven A. Lubitz,Kathryn L. Lunetta,James Luo,Michael C. Mahaney,Barry Make,JoAnn E. Manson,Lauren Margolin,Lisa W. Martin,Susan K. Mathai,Rasika A. Mathias,Patrick F. McArdle,Merry Lynn McDonald,Sean K. McFarland,Stephen T. McGarvey,Hao Mei,Deborah A. Meyers,Julie L. Mikulla,Nancy Min,Mollie A. Minear,Ryan L. Minster,May E. Montasser,Solomon K. Musani,Stanford Mwasongwe,Josyf C. Mychaleckyj,Girish N. Nadkarni,Rakhi P. Naik,Sergei Nekhai,Deborah A. Nickerson,Kari E. North,Jeffrey R. O'Connell,Timothy D. O’Connor,Heather M. Ochs-Balcom,James S. Pankow,George J. Papanicolaou,Margaret G. Parker,Afshin Parsa,Sara Penchev,Juan M. Peralta,Marco V Perez,James A. Perry,Ulrike Peters,Ulrike Peters,Patricia A. Peyser,Larry Phillips,Sam Phillips,Toni I. Pollin,Julia Powers Becker,Meher Preethi Boorgula,Michael Preuss,Dmitry Prokopenko,Bruce M. Psaty,Pankaj Qasba,Dandi Qiao,Zhaohui S. Qin,Nicholas Rafaels,Laura M. Raffield,Dabeeru C. Rao,Laura J. Rasmussen-Torvik,Aakrosh Ratan,Susan Redline,Robert M. Reed,Elizabeth A. Regan,Alexander P. Reiner,Alexander P. Reiner,Kenneth Rice,Dan M. Roden,Carolina Roselli,Ingo Ruczinski,Pamela Russell,Sarah Ruuska,Phuwanat Sakornsakolpat,Shabnam Salimi,Steven L. Salzberg,Kevin Sandow,Vijay G. Sankaran,Christopher Scheller,Ellen M. Schmidt,Karen Schwander,David A. Schwartz,Frank C. Sciurba,Christine E. Seidman,Vivien A. Sheehan,Amol C. Shetty,Aniket Shetty,Wayne Hui Heng Sheu,M. Benjamin Shoemaker,Brian Silver,Edwin K. Silverman,Jennifer A. Smith,Josh Smith,Nicholas L. Smith,Tanja Smith,Sylvia Smoller,Beverly Snively,Tamar Sofer,Nona Sotoodehnia,Adrienne M. Stilp,Elizabeth A. Streeten,Yun Ju Sung,Jody S. Sylvia,Adam A. Szpiro,Carole Sztalryd,Daniel Taliun,Hua Tang,Margaret A. Taub,Kent D. Taylor,Simeon I. Taylor,Marilyn J. Telen,Timothy A. Thornton,Lesley F. Tinker,David L. Tirschwell,Hemant K. Tiwari,Russell P. Tracy,Dhananjay Vaidya,Peter VandeHaar,Scott I. Vrieze,Scott I. Vrieze,Tarik Walker,Robert B. Wallace,Avram D Walts,Emily S. Wan,Fei Fei Wang,Karol E. Watson,Daniel E. Weeks,Bruce S. Weir,Scott T. Weiss,Lu-Chen Weng,Cristen J. Willer,Kayleen Williams,L. Keoki Williams,Carla Wilson,Quenna Wong,Huichun Xu,Lisa R. Yanek,Ivana V. Yang,Rongze Yang,Norann A. Zaghloul,Yingze Zhang,Snow Xueyan Zhao,Wei Zhao,Xiuwen Zheng,Degui Zhi,Xiang Zhou,Michael C. Zody,Sebastian Zoellner +355 more
TL;DR: In this article, the authors used deep-coverage whole genome sequencing in 8392 individuals of European and African ancestry to discover and interpret both single-nucleotide variants and copy number (CN) variation associated with Lp(a).