Genomic Sequencing Expansion and Incomplete Penetrance
نویسندگان
چکیده
منابع مشابه
Incomplete penetrance of MHC
We propose an approach to understanding incomplete penetrance of disease susceptibility genes as a method of studying the underlying mechanisms of polygenic diseases. Incomplete penetrance is the failure of genetically susceptible individuals to exhibit a trait. We define as baseline penetrance that which occurs in genetically identical (monozygotic) twins of an index subject with a major histo...
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Cell colonization during embryonic development involves cells migrating and proliferating over growing tissues. Unsuccessful colonization, resulting from genetic causes, can result in various birth defects. However not all individuals with the same mutation show the disease. This is termed incomplete penetrance, and it even extends to discordancy in monozygotic (identical) twins. A one-dimensio...
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Unique DNA sequences can be determined directly from mouse genomic DNA. A denaturing gel separates by size mixtures of unlabeled DNA fragments from complete restriction and partial chemical cleavages of the entire genome. These lanes of DNA are transferred and UV-crosslinked to nylon membranes. Hybridization with a short 32P-labeled singlestranded probe produces the image of a DNA sequence "lad...
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ژورنال
عنوان ژورنال: Pediatrics
سال: 2019
ISSN: 0031-4005,1098-4275
DOI: 10.1542/peds.2018-1099e