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4 results on '"Del Vecchyo, Diego Ortega"'

1. Imputation Performance in Latin American Populations: Improving Rare Variants Representation With the Inclusion of Native American Genomes

Author

Jiménez-Kaufmann, Andrés, primary, Chong, Amanda Y., additional, Cortés, Adrián, additional, Quinto-Cortés, Consuelo D., additional, Fernandez-Valverde, Selene L., additional, Ferreyra-Reyes, Leticia, additional, Cruz-Hervert, Luis Pablo, additional, Medina-Muñoz, Santiago G., additional, Sohail, Mashaal, additional, Palma-Martinez, María J., additional, Delgado-Sánchez, Gudalupe, additional, Mongua-Rodríguez, Norma, additional, Mentzer, Alexander J., additional, Hill, Adrian V. S., additional, Moreno-Macías, Hortensia, additional, Huerta-Chagoya, Alicia, additional, Aguilar-Salinas, Carlos A., additional, Torres, Michael, additional, Kim, Hie Lim, additional, Kalsi, Namrata, additional, Schuster, Stephan C., additional, Tusié-Luna, Teresa, additional, Del-Vecchyo, Diego Ortega, additional, García-García, Lourdes, additional, and Moreno-Estrada, Andrés, additional

Published
2022
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3. Height-reducing variants and selection for short stature in Sardinia

Author

Ioanna Tachmazidou, Ramaiah Nagaraja, Diego Ortega-Del Vecchyo, Nicholas J. Timpson, George Dedoussis, Maristella Steri, Fabio Busonero, Alessandro P Delitala, Ginevra Biino, Federico Murgia, Gonçalo R. Abecasis, Kirk E. Lohmueller, Charleston W. K. Chiang, John Novembre, Serena Sanna, Joseph Marcus, Robert H. Lyons, Antonella Mulas, Matteo Floris, Eleftheria Zeggini, Maria Pina Concas, Michele Marongiu, Andrea Maschio, Magdalena Zoledziewska, Simona Vaccargiu, Nicole Soranzo, Sergio Uzzau, Andrea Angius, Antonella Meloni, David Schlessinger, Carlo Sidore, Chris Jones, Francesco Cucca, Zoledziewska, Magdalena, Sidore, Carlo, Chiang, Charleston W. K., Sanna, Serena, Mulas, Antonella, Steri, Maristella, Busonero, Fabio, Marcus, Joseph H., Marongiu, Michele, Maschio, Andrea, Del Vecchyo, Diego Ortega, Floris, Matteo, Meloni, Antonella, Delitala, Alessandro, Concas, MARIA PINA, Murgia, Federico, Biino, Ginevra, Vaccargiu, Simona, Nagaraja, Ramaiah, Lohmueller, Kirk E., Timpson, Nicholas J., Soranzo, Nicole, Tachmazidou, Ioanna, Dedoussis, George, Zeggini, Eleftheria, Uzzau, Sergio, Jones, Chri, Lyons, Robert, Angius, Andrea, Abecasis, Goncalo R., Novembre, John, Schlessinger, David, Cucca, Francesco, Faculteit Medische Wetenschappen/UMCG, and Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

Subjects
Male, Population genetics, Genome-wide association study, Body Height, Carrier Proteins, Founder Effect, Gene Frequency, Genome-Wide Association Study, Genotype, Haplotypes, High-Throughput Nucleotide Sequencing, KCNQ1 Potassium Channel, Laron Syndrome, Genetic Variation, Selection, Genetic, Genetics, 0302 clinical medicine, 80 and over, Haplotype, Longitudinal Studies, Non-U.S. Gov't, 10. No inequality, Aged, 80 and over, Islands, 0303 health sciences, Research Support, Non-U.S. Gov't, Middle Aged, Italy, Female, medicine.symptom, Adult, Biology, Research Support, Short stature, Article, N.I.H, 03 medical and health sciences, Young Adult, Research Support, N.I.H., Extramural, Genetic, Genetic drift, Journal Article, medicine, Humans, Allele, Selection, Allele frequency, 030304 developmental biology, Aged, Extramural, Minor allele frequency, Carrier Protein, 030217 neurology & neurosurgery, Founder effect
Abstract

We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identify two variants with large effects. One variant, which introduces a stop codon in the GHR gene, is relatively frequent in Sardinia (0.87% versus

Published
2015

4. Genotype imputation via matrix completion.

Author

Chi EC, Zhou H, Chen GK, Del Vecchyo DO, and Lange K

Subjects
Algorithms, Computer Simulation, Genome, Human, HapMap Project, Humans, Microarray Analysis, Polymorphism, Single Nucleotide, Artificial Intelligence, Genotype, Models, Genetic, Software
Abstract

Most current genotype imputation methods are model-based and computationally intensive, taking days to impute one chromosome pair on 1000 people. We describe an efficient genotype imputation method based on matrix completion. Our matrix completion method is implemented in MATLAB and tested on real data from HapMap 3, simulated pedigree data, and simulated low-coverage sequencing data derived from the 1000 Genomes Project. Compared with leading imputation programs, the matrix completion algorithm embodied in our program MENDEL-IMPUTE achieves comparable imputation accuracy while reducing run times significantly. Implementation in a lower-level language such as Fortran or C is apt to further improve computational efficiency.

Published
2013
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