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pmid:27222811

Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization.

Bo Yuan · Pengfei Liu · Jeffrey Rogers · James R Lupski

Genomics data · 2016 doi:10.1016/j.gdata.2016.04.008

Paper

complete

Experiment

complete

Data

partial

Analysis

partial

Execution

absent

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generator object · 2 fields
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title
Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization.
doi
10.1016/j.gdata.2016.04.008
pmid
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authors array · 4 items
[0]
Bo Yuan
[1]
Pengfei Liu
[2]
Jeffrey Rogers
[3]
James R Lupski
journal
Genomics data
year
2016
abstract
Array comparative genomic hybridization (aCGH) has been widely used to detect copy number variants (CNVs) in both research and clinical settings. A customizable aCGH platform may greatly facilitate copy number analyses in genomic regions with higher-order complexity, such as low-copy repeats (LCRs). Here we present the aCGH analyses focusing on the 45 kb LCRs [1] at the NPHP1 region with diverse copy numbers in humans. Also, the interspecies aCGH analysis comparing human and nonhuman primates revealed dynamic copy number transitions of the human 45 kb LCR orthologues during primate evolution and therefore shed light on the origin of complexity at this locus. The original aCGH data are available at GEO under GSE73962.
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ADM-2 algorithm with threshold 4.0 was used to call CNVs.
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A customized aCGH analysis revealed dynamic copy-number transitions of the human 45 kb LCR orthologues during primate evolution; copy number was estimated from normalized log2 ratios using the ADM-2 algorithm, and the original data are available at GEO under GSE73962.
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Also, the interspecies aCGH analysis comparing human and nonhuman primates revealed dynamic copy number transitions of the human 45 kb LCR orthologues during primate evolution and therefore shed light on the origin of complexity at this locus.
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Copy number was determined by normalized log2 ratio (LR) of Cy5/Cy3 fluorescence signal of each probe. ADM-2 algorithm with threshold 4.0 was used to call CNVs.
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sections[0] "Abstract" paragraph 1
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The original aCGH data are available at GEO under GSE73962.
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A customized aCGH analysis revealed dynamic copy-number transitions of the human 45 kb LCR orthologues during primate evolution; copy number was estimated from normalized log2 ratios using the ADM-2 algorithm, and the original data are available at GEO under GSE73962.
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title
Comparative genomic analyses of the human NPHP1 locus reveal complex genomic architecture and its regional evolution in primates
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