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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young
BackgroundSudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family...
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Genetic Instability and Disease Progression of Indian Rett Syndrome Patients
Rett syndrome (RTT) is the rare neurodevelopmental disorder caused by mutations in methyl CpG binding protein 2 ( MECP2 ) gene with a prevalence of...
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Genetic Associations with Coronavirus Susceptibility and Disease Severity
The severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is responsible for the coronavirus disease 2019 (COVID-19) global public health...
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Cross-ancestry genetic architecture and prediction for cholesterol traits
While cholesterol is essential, a high level of cholesterol is associated with the risk of cardiovascular diseases. Genome-wide association studies...
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Origin, Genetic Diversity, and Migration Routes of Cultivated Emmer Triticum dicoccum
AbstractIn a period of considerable climate and environmental changes, and constant population growth, new effective approaches to wheat breeding are...
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Is there a “pandemic effect” on individuals’ willingness to take genetic tests?
In this cross-sectional, semi-longitudinal and quasi-experimental study, our goal was to determine the effect of data storage conditions on...
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The potential and translational application of infant genetic research
In the current genomic revolution, the infancy life stage is the most neglected. Although clinical genetics recognizes the value of early...
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Genetic Testing in Cancer
This chapter introduces the concept of cancer as a genetic disease, and the consequent need for genetic testing to help guide diagnosis and...
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Considerations for first field trials of low-threshold gene drive for malaria vector control
Sustainable reductions in African malaria transmission require innovative tools for mosquito control. One proposal involves the use of low-threshold...
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Etiology of Ataxia: A Mechanistic Insight of Autoimmune, Toxicity, and Genetic Approach
Ataxia is a diverse neurological disorders characterized by impaired coordination of voluntary muscle movements. Most often, affected parts of the...
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The Genetic Programs Behind Cerebellar Development
Careful analyses of cerebellar phenotypes of mice with single gene mutations have been central to defining the developmental programs that build the...
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Some Extensions of Genetic Association Study
Now that we know how to identify a genetic locus associated with a phenotype, be it qualitative or quantitative, there might arise different...
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The reuse of genetic information in research and informed consent
Important advances in genetics research have been made in recent years. Such advances have facilitated the availability of huge amounts of genetic...
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An atlas of genetic determinants of forearm fracture
Osteoporotic fracture is among the most common and costly of diseases. While reasonably heritable, its genetic determinants have remained elusive....
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Progress and Implications from Genetic Studies of Bipolar Disorder
With the advancements in gene sequencing technologies, including genome-wide association studies, polygenetic risk scores, and high-throughput...
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Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is a high-prevalence autosomal dominant neuromuscular disease characterized by significant...
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The physical and psychiatric health conditions related to autism genetic scores, across genetic ancestries, sexes and age-groups in electronic health records
BackgroundAlthough polygenic scores (PGS) for autism have been related to various psychiatric and medical conditions, most studies to date have been...
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Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
It has been suggested that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ancestries than those with...
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Examining the relationship between genetic polymorphisms (BDKRB2, GNB3, HIF1A, MCT1, NOS3) and endurance athlete status
PurposeGenetic factors are important in terms of athletic performance. Recent studies to determine the relationship between the genes that lead to...
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Genetic Mouse Models of Pneumocystis Pneumonia
Pneumocystis jirovecii causes pneumonia in immunocompromisedImmunocompromised patients. A major challenge in drug susceptibility testing and in...