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Genome-Wide Principles of Gene Regulation
In this chapter, we will discuss about new principles of genome-wide gene regulation as obtained through data from Big Biology projects like ENCODE,...
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Identification of Host Factors of Paramyxoviruses by siRNA Genome-Wide Screens
Measles is a highly infectious disease that continues to spread mainly in develo** countries, often resulting in child mortality. Despite the...
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Cross-ancestry genome-wide association studies of brain imaging phenotypes
Genome-wide association studies of brain imaging phenotypes are mainly performed in European populations, but other populations are severely...
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Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been...
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Genome-wide determinants of mortality and motor progression in Parkinson’s disease
There are 90 independent genome-wide significant genetic risk variants for Parkinson’s disease (PD) but currently only five nominated loci for PD...
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Ethnicity- and sex-specific genome wide association study on Parkinson’s disease
Most previous genome-wide association studies (GWASs) on Parkinson’s disease (PD) focus on the European population. There are several sex-specific...
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Methods and applications of genome-wide profiling of DNA damage and rare mutations
DNA damage is a threat to genome integrity and can be a cause of many human diseases, owing to either changes in the chemical structure of DNA or...
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Genome-Wide Association Study of the Risk of Schizophrenia in the Republic of Bashkortostan
Genome-wide association studies (GWAS) have proven to be a powerful approach to discovering genes for susceptibility to schizophrenia; their findings...
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Genome-wide association study identifies novel susceptibilities to adult moyamoya disease
Genome-wide association study has limited to discover single-nucleotide polymorphisms (SNPs) in several ethnicities. Here, we investigated an initial...
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Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson’s disease in Chinese population
Genome-wide association studies (GWASs) have identified numerous susceptibility loci for Parkinson’s disease (PD), but its genetic architecture...
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Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
The transferability and clinical value of genetic risk scores (GRSs) across populations remain limited due to an imbalance in genetic studies across...
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Genome-wide association study on pharmacological outcomes of musculoskeletal pain in UK Biobank
The pharmacological management of musculoskeletal pain starts with NSAIDs, followed by weak or strong opioids until the pain is under control....
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Searching for Ethnospecific Risk Markers of Paranoid Schizophrenia in Bashkirs Based on the Results from Genome-Wide Association Study
AbstractIt is now known that schizophrenia is a multifactorial disease in which both genetic and environmental factors play a role. In recent years,...
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STRAS:a snakemake pipeline for genome-wide short tandem repeats annotation and score
High-throughput whole genome sequencing (WGS) is clinically used in finding single nucleotide variants and small indels. Several bioinformatics tools...
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Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis
Prenatal Exome (pES) or Genome (pGS) Sequencing analysis showed a significant incremental diagnostic yield over karyotype and chromosomal microarray...
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Genome-wide ATAC-see screening identifies TFDP1 as a modulator of global chromatin accessibility
Chromatin accessibility is a hallmark of active regulatory regions and is functionally linked to transcriptional networks and cell identity. However,...
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Genome-wide association study of preterm birth and gestational age in a Japanese population
Preterm birth (PTB), defined as the birth of a baby at <37 weeks of gestation, is known to be the main cause of neonatal morbidity and mortality....
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Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions
Here, in a multi-ancestry genome-wide association study meta-analysis of kidney cancer (29,020 cases and 835,670 controls), we identified 63...
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A Guide to Genome-Wide Association Study Design for Diabetic Retinopathy
Diabetic retinopathy (DR) is the most common microvascular complication related to diabetes. There is evidence that genetics play an important role...
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Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes
The hippocampus is critical for memory and cognition and neuropsychiatric disorders, and its subfields differ in architecture and function....
