Biological relevance of CNV calling methods using familial relatedness including monozygotic twins
نویسندگان
چکیده
منابع مشابه
Familial Colloid Cyst of the Third Ventricle in Monozygotic Twins
J Neurol Stroke 2017, 6(6): 00219 mm versus 8 mm), 3) ventricular dilation (83% versus 31%),and 4) increased signal on T2-weighted magnetic resonance images (44% versus 8%) [1]. More than half of cases were discovered incidentally. In five patients with incidental cysts (8.8%) an enlargement of the cyst was documented and a surgical procedure was done. Nearly half of symptomatic patients presen...
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Deletions in 15q13.3 belong to the most frequently identified recurrent CNVs, and lead to mental retardation, seizures and minor dysmorphism. We report on two monozygotic twin boys with a mosaic 1.5 Mb deletion in 15q13.3, including CHRNA7. The growth parameters were in the normal range for both twins. Both had language delay with hyperactivity, temper tantrums and poor social interaction but a...
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BACKGROUND The advent of high throughput sequencing methods breeds an important amount of technical challenges. Among those is the one raised by the discovery of copy-number variations (CNVs) using whole-genome sequencing data. CNVs are genomic structural variations defined as a variation in the number of copies of a large genomic fragment, usually more than one kilobase. Here, we aim to compar...
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BACKGROUND Biomarkers of biological aging - DNA methylation age (DNAm age) and leukocyte telomere length (LTL)- correlate strongly with chronological age across the life course. It is, however, unclear how these measures of cellular wear and tear are associated with muscle strength and functional capacity, which are known to decline with older age and are associated with mortality. We investiga...
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This case report defines a case of isolated oligodontia of 9 and 10 permanent teeth in 9-year-old monozygotic twin sisters and gives information about the possible genetic and environmental etiology, related dental anomalies and treatment options. The twins have a negative family history of hypodontia and oligodontia in their parents, as well as their paternal and maternal grandmothers and firs...
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ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2014
ISSN: 1471-2105
DOI: 10.1186/1471-2105-15-114