Results 21 to 30 of about 4,615,445 (390)

A robust and efficient method for Mendelian randomization with hundreds of genetic variants

Nature Communications, 2020
Mendelian randomization (MR) is an epidemiological technique that uses genetic variants to distinguish correlation from causation in observational data. The reliability of a MR investigation depends on the validity of the genetic variants as instrumental
S. Burgess, Christopher N. Foley, E. Allara, James R. Staley, J. Howson   +4 more
semanticscholar   +1 more source

Genomic Diversity Evaluation of Populus trichocarpa Germplasm for Rare Variant Genetic Association Studies

Frontiers in Genetics, 2020
Genome-wide association studies are powerful tools to elucidate the genome-to-phenome relationship. In order to explain most of the observed heritability of a phenotypic trait, a sufficient number of individuals and a large set of genetic variants must ...
Anthony Piot, Anthony Piot, Anthony Piot, Julien Prunier, Julien Prunier, Julien Prunier, Nathalie Isabel, Jaroslav Klápště, Yousry A. El-Kassaby, Juan Carlos Villarreal Aguilar, Juan Carlos Villarreal Aguilar, Juan Carlos Villarreal Aguilar, Ilga Porth, Ilga Porth, Ilga Porth   +14 more
doaj   +1 more source

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]

, 2016
BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A, Bowne, Sara J, Clark, Michael J, Daiger, Stephen P, Garcia, Sarah, Gorin, Michael B, Martinez, Ariadna, Matynia, Anna, Parikh, Sachin, Strom, Samuel P, Sullivan, Lori S   +10 more
core   +8 more sources

Presence of Genetic Variants Among Young Men With Severe COVID-19.

Journal of the American Medical Association (JAMA), 2020
Importance Severe coronavirus disease 2019 (COVID-19) can occur in younger, predominantly male, patients without preexisting medical conditions. Some individuals may have primary immunodeficiencies that predispose to severe infections caused by severe ...
C. I. van der Made, A. Simons, J. Schuurs-Hoeijmakers, G. van den Heuvel, T. Mantere, Simone Kersten, R. V. van Deuren, M. Steehouwer, S. V. van Reijmersdal, M. Jaeger, T. Hofste, G. Astuti, Jordi Corominas Galbany, Vyne van der Schoot, H. van der Hoeven, W. Hagmolen of ten Have, E. Klijn, Catrien van den Meer, Jeroen Fiddelaers, Q. de Mast, C. Bleeker‐Rovers, L. Joosten, H. Yntema, C. Gilissen, M. Nelen, J. V. D. van der Meer, H. Brunner, M. Netea, F. L. van de Veerdonk, A. Hoischen   +29 more
semanticscholar   +1 more source

Unified representation of genetic variants [PDF]

Bioinformatics, 2015
Abstract Summary: A genetic variant can be represented in the Variant Call Format (VCF) in multiple different ways. Inconsistent representation of variants between variant callers and analyses will magnify discrepancies between them and complicate variant filtering and duplicate removal.
Adrian Tan, Hyun Min Kang, Gonçalo R. Abecasis   +2 more
openaire   +3 more sources

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]

, 2020
Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun, Ackerman, Ackerman, Amendola, Bennett, Blekhman, Bombard, Campuzano, Chen, David, Denham, Dunn, Eilbeck, El Mecky, Harrison, Kobayashi, Lek, Macklin, Moreno, Priori, Richards, Richards, Semsarian, Smith, Tsai, Vears, Walsh, Wordsworth   +27 more
core   +1 more source

Dystrophin genetic variants and autism

Discover Mental Health, 2022
AbstractLoss-of-function variants in the dystrophin gene, a well-known cause of muscular dystrophies, have emerged as a mutational risk mechanism for autism spectrum disorder (ASD), which in turn is a highly prevalent (~ 1%) genetically heterogeneous neurodevelopmental disorder.
Maria Rita Passos-Bueno, Claudia Ismania Samogy Costa, Mayana Zatz   +2 more
openaire   +2 more sources

Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis

Scientific Reports, 2021
In sudden unexpected death in infancy cases, postmortem genetic analysis with next-generation sequencing potentially can extract candidate genes associated with sudden death.
Keita Shingu, Takehiko Murase, Takuma Yamamoto, Yuki Abe, Yoriko Shinba, Masahide Mitsuma, Takahiro Umehara, Hiromi Yamashita, Kazuya Ikematsu   +8 more
doaj   +1 more source

Genetic variants of SLC11A1 are associated with both autoimmune and infectious diseases: Systematic review and meta-analysis [PDF]

, 2015
© 2015 Macmillan Publishers Limited All rights reserved. A systematic review and meta-analyses were undertaken to investigate the association of SLC11A1 genetic variants with disease occurrence.
Archer, NS, Nassif, NT, O'Brien, BA
core   +1 more source

A general framework for estimating the relative pathogenicity of human genetic variants

Nature Genetics, 2014
Current methods for annotating and interpreting human genetic variation tend to exploit a single information type (for example, conservation) and/or are restricted in scope (for example, to missense changes).
Martin Kircher, D. Witten, Preti Jain, B. O’Roak, G. Cooper, J. Shendure   +5 more
semanticscholar   +1 more source