Search Results - Genetic Variation.

Mendelian CNV mutations

Table of Contents: “…Contents: Copy number variation has now been shown to be a major cause of human genetic variation -- It has been implicated as the main cause of mental retardation disorders -- The boundary between benign and malignant copy number variations is blurring -- This is because certain CNVs can be benign but cause genetic disorders dependent on copy number state, sex and genetic background -- We coin them "Mendelian CNVs" -- An overview of autosomal recessive, dominant, X-linked and imprinted CNVs -- Diagnostic and clinical consequences.…”
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Exploring and predicting phenotype and function in cancer biology working in high dimensional data spaces /

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Exploring and predicting phenotype and function in cancer biology working in high dimensional data spaces /

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Array comparative genomic hybridisation to characterise copy number variation in the human genome

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Array comparative genomic hybridisation to characterise copy number variation in the human genome

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An overview of human migrations

Table of Contents: “…Contents: The human genome and human genetic variation -- The distribution of genetic diversity -- Migration out of Africa -- Interbreeding with archaic humans -- Examples of genetic adaptation -- Later expansions and migrations -- The importance of interdisciplinary research.…”
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An overview of human migrations

Table of Contents: “…Contents: The human genome and human genetic variation -- The distribution of genetic diversity -- Migration out of Africa -- Interbreeding with archaic humans -- Examples of genetic adaptation -- Later expansions and migrations -- The importance of interdisciplinary research.…”
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Williams-Beuren syndrome locus a model of CNV affecting gene dosage and phenotypes /

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Williams-Beuren syndrome locus a model of CNV affecting gene dosage and phenotypes /

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Ethnic variation in the susceptibility to diabetes

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Ethnic variation in the susceptibility to diabetes

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The influence of variation at the killer cell immunoglobulin-like receptor gene complex on human disease

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The influence of variation at the killer cell immunoglobulin-like receptor gene complex on human disease

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The future of CNVs sequence based resolution and links to human disease, part 1 of 2 /

Table of Contents: “…Contents: Human genetic variation -- "Normal" structural variation -- Copy number polymorphism and disease -- Duplicated sequences: copy number variant (CNV) hotspots -- Structural variation and enriched gene functions -- Array comparative genomic hybridization -- Insufficiency of CNV detection -- Sequence-based resolution of structural variation -- Genome-wide detection of structural variation -- Validated sites of structural variation -- Frequency and length distribution -- APOBEC3B -- Breakpoint heterogeneity -- Detection of novel insertion sequences.…”
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The future of CNVs sequence based resolution and links to human disease, part 1 of 2 /

Table of Contents: “…Contents: Human genetic variation -- "Normal" structural variation -- Copy number polymorphism and disease -- Duplicated sequences: copy number variant (CNV) hotspots -- Structural variation and enriched gene functions -- Array comparative genomic hybridization -- Insufficiency of CNV detection -- Sequence-based resolution of structural variation -- Genome-wide detection of structural variation -- Validated sites of structural variation -- Frequency and length distribution -- APOBEC3B -- Breakpoint heterogeneity -- Detection of novel insertion sequences.…”
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Series (Biomarkers)

The future of CNVs sequence based resolution and links to human disease, (part 2 of 2) /

Table of Contents: “…Contents: Future discovery of CNVs -- Genotyping -- Inversion and deletion -- 17q21.31 targeted sequencing -- Application of next-generation sequencing technology -- Personalized duplication or CNV map -- Long read sequencing technology -- Single-molecule, real-time detection of structural variation (SMRT-SV) -- Full-spectrum of human genetic variation.…”
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Human migration and population structure part 1 of 2 /

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Human migration and population structure part 1 of 2 /

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Analysis of protein-protein interaction, transcriptional regulation and metabolic networks

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Analysis of protein-protein interaction, transcriptional regulation and metabolic networks

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