A high-resolution human pangenome structural variant resource for improved disease association
Jiadong Lin, Jonas A. Gustafson, Julie Wertz, Yang Sui et autres
0 citationsmedRxiv
Elisabeth A. Rosenthal
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155Publications signalées
5899Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Genetic Associations and EpidemiologyGenomics and Rare DiseasesMetabolomics and Mass Spectrometry StudiesBRCA gene mutations in cancerGenetic factors in colorectal cancer
Publications récentes
Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing
Sophia B Gibson, Nikhita Damaraju, J. Gus Gustafson, Elsa Balton et autres
0 citationsmedRxiv
The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments
Nita Limdi, T. Mark Beasley, Josh Cortopassi, B. Davis et autres
4 citationsThe American Journal of Human Genetics
Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study
Lucinda P. Lawson, Cynthia A. Prows, Josh Cortopassi, Kyle Davis et autres
4 citationsThe American Journal of Human Genetics
Multiple polygenic score approach in colorectal cancer risk prediction
Sébastien Küry, Shuji Ogino, Emily White, Rachel Pearlman et autres
0 citationsCarolina Digital Repository (University of North Carolina at Chapel Hill)
Admixture Mapping of Lipid Traits in Hispanic Americans
Keyue Ding, Angad Johar, Arslan A. Zaidi, Paul K. Crane et autres
0 citationsJournal of the American Heart Association
Multiple polygenic score approach in colorectal cancer risk prediction
Shangqing Jiang, Minta Thomas, Elisabeth A. Rosenthal, Amanda I. Phipps et autres
1 citationScientific Reports
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
Isabelle Cooperstein, Shruti Marwaha, Alistair Ward, Shilpa N. Kobren et autres
12 citationsGenome Medicine
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Shilpa N. Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia et autres
6 citationsNature Communications
Phenome-wide association study identifies multiple traits associated with a polygenic risk score for colorectal cancer
Elisabeth A. Rosenthal, Wei‐Qi Wei, Yuan Luo, Bahram Namjou‐Khales et autres
1 citationHuman Genomics
Mixed-effects polygenic risk score Phenome-wide association study detects genetic correlation between colorectal cancer risk and phenotype data extracted from the electronic health record
Elisabeth A. Rosenthal, Wei‐Qi Wei, Yuan Luo, Bahram Namjou‐Khales et autres
0 citationsmedRxiv
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
Mitchell R. Vollger, Jonas Korlach, Kiara C. Eldred, Elliott Swanson et autres
38 citationsNature Genetics
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