12 Result(s)
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Bing Ge
Human Genetics
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Article
Open AccessCorrection to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome
Following publication of the original article [1], the authors reported an error in Additional file 1.
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Open AccessFunctional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome
The functional impact of genetic variation has been extensively surveyed, revealing that genetic changes correlated to phenotypes lie mostly in non-coding genomic regions. Studies have linked allele-specific g...
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Open AccessImmunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells
The observation that the genetic variants identified in genome-wide association studies (GWAS) frequently lie in non-coding regions of the genome that contain cis-regulatory elements suggests that altered gene ex...
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Open AccessPopulation whole-genome bisulfite sequencing across two tissues highlights the environment as the principal source of human methylome variation
CpG methylation variation is involved in human trait formation and disease susceptibility. Analyses within populations have been biased towards CpG-dense regions through the application of targeted arrays. We ...
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Open AccessThe relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts
DNA methylation plays an essential role in the regulation of gene expression. While its presence near the transcription start site of a gene has been associated with reduced expression, the variation in methyl...
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Open AccessAnalysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome
X-chromosome inactivation (XCI) results in the silencing of most genes on one X chromosome, yielding mono-allelic expression in individual cells. However, random XCI results in expression of both alleles in mo...
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Open AccessGenome-wide assessment of imprinted expression in human cells
Parent-of-origin-dependent expression of alleles, imprinting, has been suggested to impact a substantial proportion of mammalian genes. Its discovery requires allele-specific detection of expressed transcripts...
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Global patterns of cis variation in human cells revealed by high-density allelic expression analysis
Tomi Pastinen and colleagues report a genome-wide analysis of allelic expression variation in lymphoblastoid cell lines from HapMap individuals.
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Discrimination between serous low malignant potential and invasive epithelial ovarian tumors using molecular profiling
Tumors of low malignant potential (LMP) represent 20% of epithelial ovarian cancers (EOCs) and are associated with a better prognosis than the invasive tumors (TOV). Defining the relationship between LMPs and ...
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Patterns of expression of chromosome 17 genes in primary cultures of normal ovarian surface epithelia and epithelial ovarian cancer cell lines
Oligonucleotide microarray analysis was applied to assess the expression profile of 332 probe sets representing 308 genes or expressed sequence tags (ESTs) that map to chromosome 17 in order to address epigene...
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ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS or SACS) is an early onset neurodegenerative disease with high prevalence (carrier frequency 1/22) in the Charlevoix-Saguenay-Lac-Saint-Jean (C...
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Radiation hybrid map of the mouse genome
Radiation hybrid (RH) maps are a useful tool for genome analysis, providing a direct method for localizing genes and anchoring physical maps and genomic sequence along chromosomes. The construction of a compre...
