Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing
نویسندگان
چکیده
منابع مشابه
Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Conventional cytogenetic testing offers low-resolution detection of balanced karyotypic abnormalities but cannot provide the precise, gene-level knowledge required to predict outcomes. The use of high-resolution whole-genome deep sequencing is currently impractical for the purpose of routine clinical care. We show here that whole-genome "jumping libraries" can offer an immediately applicable, n...
متن کاملLong QT syndrome and life threatening arrhythmia in a newborn: molecular diagnosis and treatment response.
Intrauterine and neonatal manifestations of congenital long QT syndrome are associated with a high cardiac risk, particularly when atrioventricular block and excessive QT prolongation (> 600 ms(1/2)) are present. In a female newborn with these features, treatment with propranolol and mexiletine led to complete reduction of arrhythmia that was maintained 1.5 years later. High throughput genetic ...
متن کاملIn utero diagnosis of long QT syndrome by magnetocardiography.
BACKGROUND The electrophysiology of long QT syndrome (LQTS) in utero is virtually unstudied. Our goal here was to evaluate the efficacy of fetal magnetocardiography (fMCG) for diagnosis and prognosis of fetuses at risk of LQTS. METHODS AND RESULTS We reviewed the pre/postnatal medical records of 30 fetuses referred for fMCG because of a family history of LQTS (n=17); neonatal/childhood sudden...
متن کاملRapid single-colony whole-genome sequencing of bacterial pathogens
OBJECTIVES As a result of the introduction of rapid benchtop sequencers, the time required to subculture a bacterial pathogen to extract sufficient DNA for library preparation can now exceed the time to sequence said DNA. We have eliminated this rate-limiting step by developing a protocol to generate DNA libraries for whole-genome sequencing directly from single bacterial colonies grown on prim...
متن کاملWhole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.
OBJECTIVE To investigate the feasibility of whole exome sequencing (WES) and whole genome re-sequencing (WGS) in the prenatal diagnosis of achondroplasia (ACH). METHODS Eleven highly suspected with ACH or hypochondroplasia (HCH) fetuses and their parents were enrolled in this study. Routine prenatal examinations were carried out in all pregnant women. WGS was performed for the detection of co...
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ژورنال
عنوان ژورنال: Heart Rhythm
سال: 2014
ISSN: 1547-5271
DOI: 10.1016/j.hrthm.2014.06.030