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期刊名:Current protocols in human genetics

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ISSN:1934-8266

e-ISSN:1934-8258

IF/分区:0.0/

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Clinical Trial Case Reports Meta-Analysis RCT Review Systematic Review
Classical Article Case Reports Clinical Study Clinical Trial Clinical Trial Protocol Comment Comparative Study Editorial Guideline Letter Meta-Analysis Multicenter Study Observational Study Randomized Controlled Trial Review Systematic Review
Danielle Rasooly,Chirag J Patel Danielle Rasooly
Mendelian randomization (MR) is defined as the utilization of genetic variants as instrumental variables to assess the causal relationship between an exposure and an outcome. By leveraging genetic polymorphisms as proxy for an exposure, the...
Natalie Asmus,Ligia A Papale,Andy Madrid et al. Natalie Asmus et al.
Mapping patterns of DNA methylation throughout the epigenome are critical to our understanding of several important biological and regulatory functions, such as transcriptional regulation, genomic imprinting, and embryonic development. The ...
Sarah A Pendergrass,Dana C Crawford Sarah A Pendergrass
Electronic health records contain patient-level data collected during and for clinical care. Data within the electronic health record include diagnostic billing codes, procedure codes, vital signs, laboratory test results, clinical imaging,...
Marquitta J White,Brian L Yaspan,Olivia J Veatch et al. Marquitta J White et al.
Single-allele study designs, commonly used in genome-wide association studies (GWAS) as well as the more recently developed whole genome sequencing (WGS) studies, are a standard approach for investigating the relationship of common variatio...
Weilong Li,Michael F Murray,Monica A Giovanni Weilong Li
Family health history has long been known to be a powerful predictor of individual disease risk. It can be obtained prior to DNA sequencing in order to examine inheritance patterns, to be used as a proxy for genetic information, or as a too...
Bahareh Rajaei,Mohammad Massumi,Michael Wheeler Bahareh Rajaei
The International Diabetic Federation estimated that 415 million adults currently have diabetes and 318 million adults had impaired glucose tolerance, putting them at high risk of developing diabetes in the future. In Type 1 Diabetes (T1D),...
Berend J van Meer,Luca Sala,Leon G J Tertoolen et al. Berend J van Meer et al.
Quantification of contraction is essential to the study of cardiac diseases, injury, and responses to drugs. While there are many techniques to assess contractility, most rely on costly, dedicated hardware and advanced informatics, and can ...
Chengsheng Zhang,Eliza Cerveira,Willem Rens et al. Chengsheng Zhang et al.
Analysis of the organization of the human genome is vital for understanding genetic diversity, human evolution, and disease pathogenesis. A number of approaches, such as multicolor fluorescence in situ hybridization (FISH) assays, cytogenom...
Isabel Witvrouwen,Andreas B Gevaert,Emeline M Van Craenenbroeck et al. Isabel Witvrouwen et al.
MicroRNAs are short non-coding RNAs that regulate gene expression at the post-transcriptional level by mRNA degradation or suppression of translation. Their stability in plasma makes them attractive biomarkers. Since many plasma microRNA is...
Tobias A Knoch Tobias A Knoch
After now more than 170 years of research the dynamic three-dimensional chromatin architecture of genomes and the co-evolved interaction networks of regulatory elements which create genome function - i.e. the storage, expression, and finall...