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W2897079130 endingPage "41" @default.
W2897079130 startingPage "29" @default.
W2897079130 abstract "Human genetic research has morphed from studying rare disorders in families to common conditions in populations of unrelated individuals. Advances in biobanking, computer science, and EHRs linked to real-life clinical data have allowed for the study of thousands of diseases simultaneously via phenome-wide association studies. As genomic studies continue to grow in size and scale, both rare and common diseases may be studied simultaneously at the genome-wide and phenome-wide level, which may help understand the genetic causes of human diseases and ways to treat them. The field of human genomics has changed dramatically over time. Initial genomic studies were predominantly restricted to rare disorders in small families. Over the past decade, researchers changed course from family-based studies and instead focused on common diseases and traits in populations of unrelated individuals. With further advancements in biobanking, computer science, electronic health record (EHR) data, and more affordable high-throughput genomics, we are experiencing a new paradigm in human genomic research. Rapidly changing technologies and resources now make it possible to study thousands of diseases simultaneously at the genomic level. This review will focus on these advancements as scientists begin to incorporate phenome-wide strategies in human genomic research to understand the etiology of human diseases and develop new drugs to treat them. The field of human genomics has changed dramatically over time. Initial genomic studies were predominantly restricted to rare disorders in small families. Over the past decade, researchers changed course from family-based studies and instead focused on common diseases and traits in populations of unrelated individuals. With further advancements in biobanking, computer science, electronic health record (EHR) data, and more affordable high-throughput genomics, we are experiencing a new paradigm in human genomic research. Rapidly changing technologies and resources now make it possible to study thousands of diseases simultaneously at the genomic level. This review will focus on these advancements as scientists begin to incorporate phenome-wide strategies in human genomic research to understand the etiology of human diseases and develop new drugs to treat them. a tissue repository collected via clinical care and/or research. an electronic data repository of health records collected via routine clinical care. a general study design or statistical methods intended to identify genetic variants associated with a phenotype. In a case-control study, each variate is evaluated to determine whether the allele frequency is different in one group compared with the other. Although not exclusive, GWASs are often applied to populations of unrelated individuals. a family-based statistical method that evaluates whether genetic markers co-segregate with disease in families. There are numerous types of linkage analysis that can be applied to different family structures and disease models. a measure of correlation within a population between two genetic markers. Genetic variants are in LD most often when two loci are physically in close proximity to one another. Given that they are close together, few recombination events occur between the markers and they co-segregate during meiosis. a general study design or statistical method intended to identify phenotypes associated with a genotype. PheWASs often rely on in-depth phenotypic data, including EHR or epidemiologic data, to define case-control status for a variety of phenotypes. a statistical method often applied in epidemiological research to account for population substructures. one of the most common types of genetic variation in the human genome that results in a single nucleotide point change in DNA sequence. SNPs are often measured for mapping human diseases." @default.
W2897079130 created "2018-10-26" @default.
W2897079130 creator A5060959179 @default.
W2897079130 date "2019-01-01" @default.
W2897079130 modified "2023-09-25" @default.
W2897079130 title "Genomic and Phenomic Research in the 21st Century" @default.
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