المؤلفون: Christina Austin-Tse, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Noura S. Abul-Husn, Semanti Mukherjee, Samantha N. Fetterolf, Cristopher V. Van Hout, Monica A. Giovanni, Matthew S. Lebo, Omri Gottesman, Frederick E. Dewey, Thomas N. Person, Lukas Habegger, Korey A. Kost, Lance J. Adams, H. Lester Kirchner, James R. Elmore, Aris N. Economides, Christopher D. Still, Alexander H. Li, David J. Carey, Sarah A. Pendergrass, Anthony Marcketta, Jeffrey Staples, Marylyn D. Ritchie, Colm O'Dushlaine, Nehal Gosalia, Manoj Kanagaraj, William A. Faucett, John Penn, Raghu Metpally, Ingrid B. Borecki, Kavita Praveen, Jonathan S. Packer, Shannon Bruse, Andrew J. Murphy, Joseph B. Leader, Michael F. Murray, Suganthi Balasubramanian, Neil Stahl, Jeffrey G. Reid, David H. Ledbetter, Dustin N. Hartzel, Kimberly A. Skelding, F. Daniel Davis, Alexander Lopez, Aris Baras, George D. Yancopoulos, Scott Mellis, Robert H. Phillips, John D. Overton, Heather Mason-Suares, Lyndon J. Mitnaul, Daniel R. Lavage

المصدر: Science. 354

مصطلحات موضوعية: Adult, 0301 basic medicine, Disease, Familial hypercholesterolemia, Bioinformatics, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, INDEL Mutation, Genetic variation, Electronic Health Records, Humans, Medicine, Exome, Molecular Targeted Therapy, Risk factor, Allele frequency, Exome sequencing, Hypolipidemic Agents, Multidisciplinary, Delivery of Health Care, Integrated, business.industry, High-Throughput Nucleotide Sequencing, Genomics, Sequence Analysis, DNA, Precision medicine, medicine.disease, Lipids, 030104 developmental biology, Drug Design, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5e58c2628265e9244c34804e8f7c469
https://doi.org/10.1126/science.aaf6814

المؤلفون: Samuel V. Angiuoli, Theresa Zhang, Maura Kadan, David R. Riley, Sonya Parpart-Li, Lisa Kann, Victor E. Velculescu, Kevin Galens, Siân Jones, Monica Nesselbush, Manish Shukla, Eniko Papp, Karli Lytle, Luis A. Diaz, Valsamo Anagnostou, Derek Murphy, Mark Sausen, Bryan Chesnick

المصدر: Science Translational Medicine. 7

مصطلحات موضوعية: DNA Mutational Analysis, Genomics, Biology, medicine.disease_cause, Bioinformatics, Polymorphism, Single Nucleotide, Article, Germline, Germline mutation, Neoplasms, medicine, Humans, Exome, False Positive Reactions, Genetic Predisposition to Disease, Precision Medicine, Germ-Line Mutation, Exome sequencing, Gene Library, Retrospective Studies, Mutation, Massive parallel sequencing, Computational Biology, High-Throughput Nucleotide Sequencing, Cancer, General Medicine, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46b9b97a0898d64abda97868a2a4a192
https://doi.org/10.1126/scitranslmed.aaa7161