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An integrated map of structural variation in 2,504 human genomes
TLDR
An integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which are constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations are described.
Large-Scale Copy Number Polymorphism in the Human Genome
TLDR
It is shown that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans.
Strong Association of De Novo Copy Number Mutations with Autism
TLDR
Findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized.
Mapping copy number variation by population scale genome sequencing
TLDR
A map of unbalanced SVs is constructed based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations, and serves as a resource for sequencing-based association studies.
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
TLDR
The results suggest that multiple, individually rare mutations altering genes in neurodevelopmental pathways contribute to schizophrenia, and disrupted genes disproportionately from signaling networks controlling neurodevelopment, including neuregulin and glutamate pathways.
Sensitive and accurate detection of copy number variants using read depth of coverage.
TLDR
The results suggest that analysis of read depth is an effective approach for the detection of CNVs, and it captures structural variants that are refractory to established PEM-based methods.
Modelling schizophrenia using human induced pluripotent stem cells
TLDR
HiPSC neuronal phenotypes and gene expression changes associated with SCZD, a complex genetic psychiatric disorder, were reported and key cellular and molecular elements of theSCZD phenotype were ameliorated following treatment of SCZC hiPSC neurons with the antipsychotic loxapine.
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