Results 1 to 10 of about 612,806 (292)
Compressed Genotyping [PDF]
IEEE Transactions on Information Theory, 2009 Significant volumes of knowledge have been accumulated in recent years
linking subtle genetic variations to a wide variety of medical disorders from
Cystic Fibrosis to mental retardation.Brand, Michael, Erlich, Yaniv, Gordon, Assaf, Hannon, Gregory J., Mitra, Partha P. +4 morecore +4 more sourcesTwo new rapid SNP-typing methods for classifying Mycobacterium tuberculosis complex into the main phylogenetic lineages [PDF]
, 2012 There is increasing evidence that strain variation in Mycobacterium tuberculosis complex (MTBC) might influence the outcome of tuberculosis infection and disease.A Deshpande, AC Schürch, AC Schürch, AG Tsolaki, BC de Jong, BC de Jong, Bijaya Malla, C Allix-Béguec, C Bouakaze, C Bouakaze, C Demay, CM Sassetti, CM Sassetti, CRE McEvoy, D Portevin, D Yeboah-Manu, DA Milner Jr, David Stucki, Dorothy Yeboah-Manu, E Abadia, ES Click, G Thwaites, H Yesilkaya, I Comas, I Comas, I Filliol, I Filliol, I Parwati, Igor Mokrousov, IL Bergval, Iñaki Comas, J Kamerbeek, J Song, J Zhi, J Zhi, JD van Embden, JP Schouten, Julia Feldmann, K Okonechnikov, K Tamura, L Baker, L Fenner, L Fenner, L Flores, L Kaderali, L Wang, LE Espinosa de los Monteros, LS Cowan, Lukas Fenner, M Ben Shabat, M Caws, M Caws, M Coscolla, M Kato-Maeda, M Kato-Maeda, Mireia Coscollà, MM Gutacker, MP Nicol, NH Smith, O Mestre, P Keim, P Supply, P Supply, PM Groenen, PM Holland, PM Vallone, R Hershberg, S Gagneux, S Homolka, S Kim, S Sreevatsan, S-H Lee, SA Dunbar, SD Bentley, Sebastien Gagneux, Simon Hostettler, Sonia Borrell, ST Cole, T Pearson, TA Halse, Thembela Huna, U Nübel, WP Maddison +82 morecore +21 more sourcesPOLRMT as a Novel Susceptibility Gene for Cardiotoxicity in Epirubicin Treatment of Breast Cancer Patients
Pharmaceutics, 2021 Anthracyclines are among the most used chemotherapeutic agents in breast cancer (BC). However their use is hampered by anthracycline-induced cardiotoxicity (AIC).Alejandro Velasco-Ruiz, Rocio Nuñez-Torres, Guillermo Pita, Hans Wildiers, Diether Lambrechts, Sigrid Hatse, Danielle Delombaerde, Thomas Van Brussel, M. Rosario Alonso, Nuria Alvarez, Belen Herraez, Christof Vulsteke, Pilar Zamora, Teresa Lopez-Fernandez, Anna Gonzalez-Neira +14 moredoaj +1 more sourceA Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact
Pharmaceutics, 2023 The implementation of pharmacogenetics (PGx) is a main milestones of precision medicine nowadays in order to achieve safer and more effective therapies. Nevertheless, the implementation of PGx diagnostics is extremely slow and unequal worldwide, in part ...Rocio Nunez-Torres, Guillermo Pita, María Peña-Chilet, Daniel López-López, Jorge Zamora, Gema Roldán, Belén Herráez, Nuria Álvarez, María Rosario Alonso, Joaquín Dopazo, Anna Gonzalez-Neira +10 moredoaj +1 more sourceGenotype Imputation [PDF]
Annual Review of Genomics and Human Genetics, 2009 Genotype imputation is now an essential tool in the analysis of genome-wide association scans. This technique allows geneticists to accurately evaluate the evidence for association at genetic markers that are not directly genotyped. Genotype imputation is particularly useful for combining results across studies that rely on different genotyping ...Yun Li, Cristen Willer, Serena Sanna, Goncalo Abecasis +3 moreopenaire +3 more sourcesComparison of metagenomic and targeted methods for sequencing human pathogenic viruses from wastewater
mBio, 2023 Wastewater-based epidemiology is a powerful tool for monitoring the emergence and spread of viral pathogens at the population scale. Typical polymerase chain reaction (PCR)-based methods of quantitative and genomic monitoring of viruses in wastewater ...Harry T. Child, George Airey, Daniel M. Maloney, Abby Parker, Jonathan Wild, Suzie McGinley, Nicholas Evens, Jonathan Porter, Kate Templeton, Steve Paterson, Ronny van Aerle, Matthew J. Wade, Aaron R. Jeffries, Irene Bassano +13 moredoaj +1 more sourceA crowdsourcing database for the copy-number variation of the Spanish population
Human Genomics, 2023 Background Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood.Daniel López-López, Gema Roldán, Jose L. Fernández-Rueda, Gerrit Bostelmann, Rosario Carmona, Virginia Aquino, Javier Perez-Florido, Francisco Ortuño, Guillermo Pita, Rocío Núñez-Torres, Anna González-Neira, CSVS Crowdsourcing Group, María Peña-Chilet, Joaquin Dopazo +13 moredoaj +1 more sourceGermline genetic variation in prostate susceptibility does not predict outcomes in the chemoprevention trials PCPT and SELECT [PDF]
, 2020 Background
The development of prostate cancer can be influenced by genetic and environmental factors. Numerous germline SNPs influence prostate cancer susceptibility.Ahmed, M, Cieza-Borrella, C, Eeles, R, Goh, C, Kote-Jarai, Z, PRACTICAL consortium, Saunders, E, Schumacher, FR +7 morecore +2 more sourcesApparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants
Scientific Reports, 2022 Only up to 25% of the cases in which there is a familial aggregation of breast and/or ovarian cancer are explained by germline mutations in the well-known BRCA1 and BRCA2 high-risk genes.B. Benito-Sánchez, A. Barroso, V. Fernández, F. Mercadillo, R. Núñez-Torres, G. Pita, L. Pombo, R. Morales-Chamorro, J. M. Cano-Cano, M. Urioste, A. González-Neira, A. Osorio +11 moredoaj +1 more sourceGenetic Analysis of the Single-Nucleotide Polymorphisms rs880810, rs545793, rs80094639, and rs13251901 in Nonsyndromic Oral Clefts: A Case–Parent Trio Study
Global Medical Genetics, 2023 Oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), are the most common types of congenital anomalies of the human face. Various genetic and environmental factors play a role in developing oral clefts.Mahamad Irfanulla Khan, Prashanth CS, N. Srinath, Praveen K. Neela, Mohammed K. Mohiuddin +4 moredoaj +1 more source