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Claudia Gonzaga-Jauregui
Researcher at Regeneron
Publications - 125
Citations - 9450
Claudia Gonzaga-Jauregui is an academic researcher from Regeneron. The author has contributed to research in topics: Exome sequencing & Exome. The author has an hindex of 32, co-authored 107 publications receiving 7703 citations. Previous affiliations of Claudia Gonzaga-Jauregui include Duke University & Baylor College of Medicine.
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Journal ArticleDOI
Integrating common and rare genetic variation in diverse human populations
David Altshuler,Richard A. Gibbs,Leena Peltonen,Emmanouil T. Dermitzakis,Stephen F. Schaffner,Fuli Yu,Penelope E. Bonnen,de Bakker Piw.,Panagiotis Deloukas,Stacey Gabriel,R. Gwilliam,Sarah E. Hunt,Michael Inouye,Xiaoming Jia,Aarno Palotie,Melissa Parkin,Pamela Whittaker,Kyle Chang,Alicia Hawes,Lora Lewis,Yanru Ren,D Wheeler,Donna M. Muzny,Chris P. Barnes,Katayoon Darvishi,Matthew E. Hurles,Joshua M. Korn,K. Kristiansson,Charles Lee,S A McCarrol,James Nemesh,Alon Keinan,Stephen B. Montgomery,Samuela Pollack,Alkes L. Price,Nicole Soranzo,Claudia Gonzaga-Jauregui,Verneri Anttila,Wendy Brodeur,Mark J. Daly,Stephen Leslie,Gil McVean,Loukas Moutsianas,Huy Nguyen,Qingrun Zhang,Ghori Mjr.,Ralph McGinnis,William M. McLaren,Fumihiko Takeuchi,Sharon R. Grossman,Ilya Shlyakhter,Elizabeth Hostetter,Pardis C. Sabeti,Clement Adebamowo,Morris W. Foster,Deborah R. Gordon,Julio Licinio,M C Manca,Patricia A. Marshall,Ichiro Matsuda,D Ngare,Vivian Ota Wang,D Reddy,Charles N. Rotimi,Charmaine D.M. Royal,Richard R. Sharp,Changqing Zeng,Lisa D. Brooks,Jean E. McEwen +68 more
TL;DR: An expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.
Journal ArticleDOI
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
James R. Lupski,Jeffrey G. Reid,Claudia Gonzaga-Jauregui,David Rio Deiros,David C.Y. Chen,Lynne V. Nazareth,Matthew N. Bainbridge,Huyen Dinh,Chyn Jing,David A. Wheeler,Amy L. McGuire,Feng Zhang,Pawel Stankiewicz,John J. Halperin,Chengyong Yang,Curtis Gehman,Danwei Guo,Rola K. Irikat,Warren Tom,Nick J. Fantin,Donna M. Muzny,Richard A. Gibbs +21 more
TL;DR: As shown in this study of a family with Charcot-Marie-Tooth disease, whole-genome sequencing can identify clinically relevant variants and provide diagnostic information to inform the care of patients.
Journal ArticleDOI
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
Frederick E. Dewey,Michael F. Murray,John D. Overton,Lukas Habegger,Joseph B. Leader,Samantha N. Fetterolf,Colm O'Dushlaine,Cristopher V. Van Hout,Jeffrey Staples,Claudia Gonzaga-Jauregui,Raghu Metpally,Sarah A. Pendergrass,Monica A. Giovanni,H. Lester Kirchner,Suganthi Balasubramanian,Noura S. Abul-Husn,Dustin N. Hartzel,Daniel R. Lavage,Korey A. Kost,Jonathan S. Packer,Alexander Lopez,John Penn,Semanti Mukherjee,Nehal Gosalia,Manoj Kanagaraj,Alexander H. Li,Lyndon J. Mitnaul,Lance J. Adams,Thomas N. Person,Kavita Praveen,Anthony Marcketta,Matthew S. Lebo,Christina Austin-Tse,Heather Mason-Suares,Shannon Bruse,Scott Mellis,Robert H. Phillips,Neil Stahl,Andrew J. Murphy,Aris N. Economides,Kimberly A. Skelding,Christopher D. Still,James R. Elmore,Ingrid B. Borecki,George D. Yancopoulos,F. Daniel Davis,William A. Faucett,Omri Gottesman,Marylyn D. Ritchie,Alan R. Shuldiner,Jeffrey G. Reid,David H. Ledbetter,Aris Baras,David J. Carey +53 more
TL;DR: Exome-wide association analyses of EHR-derived lipid values, newly implicating rare predicted LoFs, and deleterious missense variants in G6PC in association with triglyceride levels found associations supporting the majority of therapeutic targets for lipid lowering.
Journal ArticleDOI
Human genome sequencing in health and disease.
TL;DR: This review summarizes the initial steps undertaken in clinical implementation of personal genome information, and describes the application of whole-genome and exome sequencing to identify the cause of genetic diseases and to suggest adjuvant therapies.
Journal ArticleDOI
Genetic identification of familial hypercholesterolemia within a single U.S. health care system
Noura S. Abul-Husn,Kandamurugu Manickam,Laney K. Jones,Eric A. Wright,Dustin N. Hartzel,Claudia Gonzaga-Jauregui,Colm O'Dushlaine,Joseph B. Leader,H. Lester Kirchner,D’Andra M. Lindbuchler,Marci L Barr,Monica A. Giovanni,Marylyn D. Ritchie,John D. Overton,Jeffrey G. Reid,Raghu Metpally,Amr H. Wardeh,Ingrid B. Borecki,George D. Yancopoulos,Aris Baras,Alan R. Shuldiner,Omri Gottesman,David H. Ledbetter,David J. Carey,Frederick E. Dewey,Michael F. Murray +25 more
TL;DR: Familial hypercholesterolemia (FH) is a public health genomics priority but remains underdiagnosed and undertreated despite widespread cholesterol screening, and the prevalence of FH variants in U.S. populations has not been well established.