Results 11 to 20 of about 4,615,445 (390)

Interpretation of genetic variants [PDF]

Thorax, 2013
Sequencing of the human genome and introduction of clinical next-generation sequencing enable discovery of all DNA variants carried by an individual. Variants may be solely responsible for disease, may contribute to disease, or may have no influence on the development of disease.
Garry R. Cutting, Patrick R. Sosnay
openaire   +2 more sources

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets

Frontiers in Genetics, 2021
Rare monogenic autoinflammatory diseases are a group of recurrent inflammatory genetic disorders caused due to genetic variants in over 37 genes. While a number of these disorders have been identified and reported in Middle Eastern populations, the ...
Parul Sharma, Abhinav Jain, Abhinav Jain, Vinod Scaria, Vinod Scaria, Vinod Scaria   +5 more
doaj   +1 more source

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

JAMA psychiatry, 2022
Key Points Question Can common genetic variants be used to differentiate between treatment-resistant schizophrenia (TRS) and other forms of this disorder?
A. Pardiñas, S. Smart, I. Willcocks, P. Holmans, Charlotte A Dennison, A. Lynham, S. Legge, B. Baune, T. Bigdeli, Murray J. Cairns, A. Corvin, A. Fanous, J. Frank, B. Kelly, A. McQuillin, I. Melle, P. Mortensen, B. Mowry, C. Pato, S. Periyasamy, M. Rietschel, D. Rujescu, C. Simonsen, D. St. Clair, P. Tooney, J. Wu, O. Andreassen, K. Kowalec, Patrick F. Sullivan, R. Murray, M. Owen, J. MacCabe, M. O’Donovan, J. Walters, O. Ajnakina, Luis Alameda, T. Barnes, D. Berardi, E. Bonora, Sara Camporesi, M. Cleusix, P. Conus, B. Crespo-Facorro, G. D’Andrea, A. Demjaha, K. Do, G. Doody, C. Eap, A. Ferchiou, M. di Forti, L. Guidi, L. Homman, R. Jenni, E. Joyce, L. Kassoumeri, I. Khadimallah, O. Lastrina, R. Muratori, H. Noyan, F. O’Neill, B. Pignon, Romeo Restellini, J. Richard, F. Schürhoff, F. Španiel, A. Szöke, I. Tarricone, A. Tortelli, A. Üçok, J. Vázquez-Bourgon   +69 more
semanticscholar   +1 more source

Matching Variants for functional characterization of genetic variants

G3: Genes, Genomes, Genetics, 2023
AbstractRapid and low-cost sequencing, as well as computer analysis, have facilitated the diagnosis of many genetic diseases, resulting in a substantial rise in the number of disease-associated genes. However, genetic diagnosis of many disorders remains problematic due to the lack of interpretation for many genetic variants, especially missenses, the ...
Sebiha Cevik, Pei Zhao, Atiyye Zorluer, Mustafa S Pir, Wenyin Bian, Oktay I Kaplan   +5 more
openaire   +2 more sources

Genetic variants associated with longitudinal changes in brain structure across the lifespan

Nature Neuroscience, 2021
Human brain structure changes throughout the lifespan. Altered brain growth or rates of decline are implicated in a vast range of psychiatric, developmental and neurodegenerative diseases.
R. Brouwer, M. Klein, K. Grasby, H. Schnack, N. Jahanshad, J. Teeuw, S. Thomopoulos, E. Sprooten, C. Franz, N. Gogtay, W. Kremen, M. Panizzon, Loes M. Olde Loohuis, C. Whelan, M. Aghajani, C. Alloza, D. Alnæs, E. Artiges, R. Ayesa-Arriola, G. Barker, M. Bastin, E. Blok, E. Bøen, I. Breukelaar, Joanna K. Bright, Elizabeth E. L. Buimer, R. Bülow, D. Cannon, S. Ciufolini, N. Crossley, C. Damatac, P. Dazzan, C. L. de Mol, S. D. de Zwarte, S. Desrivières, C. Díaz-Caneja, N. T. Doan, K. Dohm, J. Fröhner, J. Goltermann, A. Grigis, D. Grotegerd, Laura K. M. Han, M. Harris, C. Hartman, Sarah J Heany, W. Heindel, D. Heslenfeld, S. Hohmann, B. Ittermann, P. Jansen, J. Janssen, T. Jia, Jiyang Jiang, C. Jockwitz, T. Karali, D. Keeser, M. Koevoets, R. Lenroot, B. Malchow, R. Mandl, Vicente Medel, S. Meinert, Catherine A. Morgan, Thomas W. Mühleisen, L. Nabulsi, N. Opel, V. O. de la Foz, B. Overs, M. Martinot, E. Quinlan, R. Redlich, T. Marques, J. Repple, G. Roberts, Gennady V. Roshchupkin, N. Setiaman, E. Shumskaya, F. Stein, G. Sudre, S. Takahashi, A. Thalamuthu, D. Tordesillas-Gutiérrez, A. van der Lugt, N. V. van Haren, J. Wardlaw, W. Wen, H. Westeneng, K. Wittfeld, A. Zhu, A. Zugman, N. Armstrong, Gaia Bonfiglio, J. Bralten, S. Dalvie, G. Davies, M. di Forti, L. Ding, G. Donohoe, A. Forstner, J. González-Peñas, Joao Guimaraes, G. Homuth, J. Hottenga, M. Knol, J. Kwok, S. Le Hellard, K. Mather, Y. Milaneschi, D. Morris, M. Nöthen, S. Papiol, M. Rietschel, M. Santoro, V. Steen, J. Stein, F. Streit, Rick M. Tankard, A. Teumer, D. van ‘t Ent, D. van der Meer, K. V. van Eijk, E. Vassos, J. Vázquez-Bourgon, S. Witt, H. Adams, I. Agartz, D. Ames, K. Amunts, O. Andreassen, C. Arango, T. Banaschewski, B. Baune, S. Belangero, A. Bokde, D. Boomsma, R. Bressan, H. Brodaty, J. Buitelaar, W. Cahn, S. Caspers, S. Cichon, B. C. Facorro, S. Cox, U. Dannlowski, T. Elvsåshagen, T. Espeseth, P. Falkai, S. Fisher, Herta Flor, J. Fullerton, H. Garavan, P. Gowland, H. Grabe, T. Hahn, A. Heinz, M. Hillegers, J. Hoare, P. Hoekstra, M. Ikram, A. Jackowski, A. Jansen, E. Jönsson, R. Kahn, T. Kircher, M. Korgaonkar, A. Krug, H. Lemaître, U. Malt, J. Martinot, C. Mcdonald, P. Mitchell, R. Muetzel, R. Murray, F. Nees, I. Nenadić, J. Oosterlaan, R. Ophoff, P. Pan, B. Penninx, L. Poustka, P. Sachdev, G. Salum, P. Schofield, G. Schumann, Philip Shaw, K. Sim, M. Smolka, Dan J Stein, J. Trollor, L. H. van den Berg, J. Veldink, H. Walter, L. Westlye, R. Whelan, T. White, M. Wright, S. Medland, B. Franke, P. Thompson, H. H. Hulshoff Pol   +200 more
semanticscholar   +1 more source

CACSV: a computational web-sever that provides classification for cancer somatic genetic variants from different tissues

BMC Bioinformatics, 2023
Background Understanding the role and function of genetic variants is extremely important when analyzing and interpreting a myriad of human disease processes.
Nahla AlKurabi, Ahad AlGahtani, Turki M. Sobahy   +2 more
doaj   +1 more source

Role of Genetic Variants and Gene Expression in the Susceptibility and Severity of COVID-19

Annals of Laboratory Medicine, 2021
Since its first report in December 2019, coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has rapidly emerged as a pandemic affecting nearly all countries worldwide.
Sarita Choudhary, K. Sreenivasulu, Dr Prasenjit Mitra, S. Misra, Praveen Sharma   +4 more
semanticscholar   +1 more source

Visualizing the geography of genetic variants [PDF]

Bioinformatics, 2016
Abstract Summary One of the key characteristics of any genetic variant is its geographic distribution. The geographic distribution can shed light on where an allele first arose, what populations it has spread to, and in turn on how migration, genetic drift, and natural selection have acted.
Marcus, Joseph H., Novembre, John
openaire   +4 more sources

In silico identification of variations in microRNAs with a potential impact on dairy traits using whole ruminant genome SNP datasets

Scientific Reports, 2021
MicroRNAs are small noncoding RNAs that have important roles in the lactation process and milk biosynthesis. Some polymorphisms have been studied in various livestock species from the perspective of pathology or production traits. To target variants that
Céline Bourdon, Mekki Boussaha, Philippe Bardou, Marie-Pierre Sanchez, Sandrine Le Guillou, Thierry Tribout, Hélène Larroque, Didier Boichard, Rachel Rupp, Fabienne Le Provost, Gwenola Tosser-Klopp   +10 more
doaj   +1 more source

DisVar: an R library for identifying variants associated with diseases using large-scale personal genetic information [PDF]

PeerJ, 2023
Background Genetic variants may potentially play a contributing factor in the development of diseases. Several genetic disease databases are used in medical research and diagnosis but the web applications used to search these databases for disease ...
Khunanon Chanasongkhram, Kasikrit Damkliang, Unitsa Sangket   +2 more
doaj   +2 more sources