Whole-genome copy number variation analysis in anophthalmia and microphthalmia
نویسندگان
چکیده
منابع مشابه
O-38: Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells
Background Methods for haplotyping and DNA copynumber typing of single cells are paramount for studying genomic heterogeneity and enabling genetic diagnosis. Before analyzing the DNA of a single cell by microarray or next-generation sequencing, a whole-genome amplification (WGA) process is required, but it substantially distorts the frequency and composition of the cell’s alleles. As a conseque...
متن کاملI-44: Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells
Background Methods for haplotyping and DNA copynumber typing of single cells are paramount for studying genomic heterogeneity and enabling genetic diagnosis. Before analyzing the DNA of a single cell by microarray or next-generation sequencing, a whole-genome amplification (WGA) process is required, but it substantially distorts the frequency and composition of the cell’s alleles. As a conseque...
متن کاملAnophthalmia and microphthalmia
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem examination and genetic studies suggest that these conditions represent a phe...
متن کاملGeographical variation in anophthalmia and microphthalmia in England, 1988-94.
OBJECTIVE To investigate the geographical variation and clustering of congenital anophthalmia and microphthalmia in England, in response to media reports of clusters. DESIGN Comparison of pattern of residence at birth of cases of anophthalmia and microphthalmia in England in 1988-94, notified to a special register, with pattern of residence of all births. Three groups studied included all cas...
متن کاملCopy Number Variation in the Horse Genome
We constructed a 400K WG tiling oligoarray for the horse and applied it for the discovery of copy number variations (CNVs) in 38 normal horses of 16 diverse breeds, and the Przewalski horse. Probes on the array represented 18,763 autosomal and X-linked genes, and intergenic, sub-telomeric and chrY sequences. We identified 258 CNV regions (CNVRs) across all autosomes, chrX and chrUn, but not in ...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2013
ISSN: 0009-9163
DOI: 10.1111/cge.12202