Exome Sequencing in Fetuses with Structural Malformations
نویسندگان
چکیده
منابع مشابه
Exome Sequencing in Fetuses with Structural Malformations
Prenatal diagnostic testing is a rapidly advancing field. An accurate diagnosis of structural anomalies and additional abnormalities in fetuses with structural anomalies is important to allow "triage" and designation of prognosis. This will allow parents to make an informed decision relating to the pregnancy. This review outlines the current tests used in prenatal diagnosis, focusing particular...
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Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is dif...
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Introduction Next-generation DNA sequencing empowers scientists to identify genetic variations associated with human disease at higher resolution and greater sensitivity than previously possible. Two approaches are commonly employed -exome sequencing and whole genome sequencing. Exome sequencing targets protein-coding regions comprising approximately 1% of the human genome, while whole genome s...
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ژورنال
عنوان ژورنال: Journal of Clinical Medicine
سال: 2014
ISSN: 2077-0383
DOI: 10.3390/jcm3030747