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TranscriptomicsBenign Copy Number Changes in Clinical Cytogenetic Diagnostics by Array CGH
A database of apparently benign copy number variants (bCNVs) detected by a Spectral Genomics Inc./PerkinElmer BAC array platform has been maintained through the University of Utah Comparative Genomic Hybridization laboratory since 2005. The target population for this database represents 1275 patien...
ORGANISM(S): Homo sapiens 
2008-08-31 | E-GEOD-11815 | biostudies-arrayexpress
TranscriptomicsThe fine-scale and complex architecture of human copy number variation
Despite considerable excitement over the potential functional significance of copy number variants (CNVs), we still lack knowledge of the fine-scale architecture of the large majority of CNV regions in the human genome. In this study, we used a high-resolution array-based comparative genomic hybridi...
ORGANISM(S): Homo sapiens 
2008-01-23 | E-GEOD-9831 | biostudies-arrayexpress
TranscriptomicsFine-Scale Mapping and Sequencing of Structural Variation from Eight Human Genomes
Genetic variation amongst individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single-nucleotide changes. In this manuscript we explore variation on an intermediate scale-particularly insertions, deletions, and inversions affecting from a few t...
ORGANISM(S): Homo sapiens 
2008-05-01 | E-GEOD-10008 | biostudies-arrayexpress
TranscriptomicsFine-Scale Mapping and Sequencing of Structural Variation from Eight Human Genomes
Genetic variation amongst individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single-nucleotide changes. In this manuscript we explore variation on an intermediate scale-particularly insertions, deletions, and inversions affecting from a few t...
ORGANISM(S): Homo sapiens 
2008-05-01 | E-GEOD-10037 | biostudies-arrayexpress
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