E
Emily R. Holzinger
Researcher at National Institutes of Health
Publications - 28
Citations - 2730
Emily R. Holzinger is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Exome & Genome-wide association study. The author has an hindex of 14, co-authored 27 publications receiving 1995 citations. Previous affiliations of Emily R. Holzinger include Vanderbilt University Medical Center & Pennsylvania State University.
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Journal ArticleDOI
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis,Joseph H. Rothstein,Joseph H. Rothstein,Vikas Pejaver,Sumit Middha,Shannon K. McDonnell,Saurabh Baheti,Anthony M. Musolf,Qing Li,Emily R. Holzinger,Danielle M. Karyadi,Lisa A. Cannon-Albright,Craig C. Teerlink,Janet L. Stanford,William B. Isaacs,Jianfeng Xu,Kathleen A. Cooney,Kathleen A. Cooney,Ethan M. Lange,Johanna Schleutker,John D. Carpten,Isaac J. Powell,Olivier Cussenot,Geraldine Cancel-Tassin,Graham G. Giles,Graham G. Giles,Robert J. MacInnis,Robert J. MacInnis,Christiane Maier,Chih-Lin Hsieh,Fredrik Wiklund,William J. Catalona,William D. Foulkes,Diptasri Mandal,Rosalind A. Eeles,Zsofia Kote-Jarai,Carlos Bustamante,Daniel J. Schaid,Trevor Hastie,Elaine A. Ostrander,Joan E. Bailey-Wilson,Predrag Radivojac,Stephen N. Thibodeau,Alice S. Whittemore,Weiva Sieh,Weiva Sieh +45 more
TL;DR: This work developed REVEL (rare exome variant ensemble learner), an ensemble method for predicting the pathogenicity of missense variants on the basis of individual tools: MutPred, FATHMM, VEST, PolyPhen, SIFT, PROVEAN, MutationAssessor, LRT, GERP, SiPhy, phyloP, and phastCons.
Journal ArticleDOI
Methods of integrating data to uncover genotype–phenotype interactions
TL;DR: The emerging approaches for data integration — including meta-dimensional and multi-staged analyses — which aim to deepen the understanding of the role of genetics and genomics in complex outcomes are explored.
Journal ArticleDOI
Genome-wide association study of plasma efavirenz pharmacokinetics in AIDS Clinical Trials Group protocols implicates several CYP2B6 variants.
Emily R. Holzinger,Benjamin J. Grady,Marylyn D. Ritchie,Heather J. Ribaudo,Edward P. Acosta,Gene D. Morse,Roy M. Gulick,Gregory K. Robbins,David B. Clifford,Eric S. Daar,Paul J. McLaren,David W. Haas +11 more
TL;DR: Three CYP2B6 polymorphisms were independently associated with efavirenz estimated Cmin at genome-wide significance, and explained one-third of interindividual variability.
Journal ArticleDOI
Machine learning and data mining in complex genomic data—a review on the lessons learned in Genetic Analysis Workshop 19
Inke R. König,Jonathan Auerbach,Damian Gola,Elizabeth Held,Emily R. Holzinger,Marc-André Legault,Rui Sun,Nathan L. Tintle,Hsin-Chou Yang +8 more
TL;DR: In the analysis of current genomic data, application of machine learning and data mining techniques has become more attractive given the rising complexity of the projects and important forward steps were taken in the integration of different data types and the evaluation of the evidence.
Journal ArticleDOI
r2VIM: A new variable selection method for random forests in genome-wide association studies
Silke Szymczak,Silke Szymczak,Emily R. Holzinger,Abhijit Dasgupta,James D. Malley,Anne M. Molloy,James L. Mills,Lawrence C. Brody,Dwight Stambolian,Joan E. Bailey-Wilson +9 more
TL;DR: The novel variable selection method r2VIM is a promising extension to standard RF for objectively selecting relevant SNPs in GWAS while controlling the number of false-positive results.