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 +5 more
semanticscholar +1 more source
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 +8 more
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Clinical application of high throughput molecular screening techniques for pharmacogenomics. [PDF]
, 2011 Genetic analysis is one of the fastest-growing areas of clinical diagnostics. Fortunately, as our knowledge of clinically relevant genetic variants rapidly expands, so does our ability to detect these variants in patient samples.
Schrijver, Iris, Wiita, Arun P
core +1 more source
Mendelian Randomization Analysis With Multiple Genetic Variants Using Summarized Data
Genetic Epidemiology, 2013 Genome‐wide association studies, which typically report regression coefficients summarizing the associations of many genetic variants with various traits, are potentially a powerful source of data for Mendelian randomization investigations.
S. Burgess, A. Butterworth, S. Thompson
semanticscholar +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
Ethnic differences in adiposity and diabetes risk – insights from genetic studies [PDF]
, 2020 Type 2 diabetes is more common in non-Europeans and starts at a younger age and at lower BMI cut-offs. This review discusses the insights from genetic studies about pathophysiological mechanisms which determine risk of disease with a focus on the role of
Bell, J.D. +7 more
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Nucleic Acids Research, 2010 High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint a small subset of functionally important variants.
Kai Wang, Mingyao Li, H. Hakonarson
semanticscholar +1 more source
On the origins of genetic variants [PDF]
FEBS Letters, 1991 Two contrasting mechanisms responsible for the creation of genetic variants are described: one is the manifestation of the limited accuracy of the cellular machinery for DNA replication, the other results from the ability of cells to repair damaged DNA.
openaire +2 more sources
Identifying genetic variants underlying phenotypic variation in plants without complete genomes
Nature Genetics, 2020 Structural variants and presence/absence polymorphisms are common in plant genomes, yet they are routinely overlooked in genome-wide association studies (GWAS).
Yoav Voichek, D. Weigel
semanticscholar +1 more source
Association of relative brain age with tobacco smoking, alcohol consumption, and genetic variants
Scientific Reports, 2020 Brain age is a metric that quantifies the degree of aging of a brain based on whole-brain anatomical characteristics. While associations between individual human brain regions and environmental or genetic factors have been investigated, how brain age is ...
Kaida Ning +4 more
semanticscholar +1 more source