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OpenAlex konusu

Genomic variations and chromosomal abnormalities

Bu sayfa OpenAlex konu etiketine göre çalışmaları ve o konuda görünen akademisyenleri listeler. YÖKSİS temel alan / yan dal değildir.

OpenAlex 1.579 eser 82 yazar konusu

Çalışmalar

1.579 eser

  1. Mapping genomic loci implicates genes and synaptic biology in schizophrenia 2022
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    Schizophrenia has a heritability of 60–80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant associations at 287 distinct genomic loci. Associations were con…

  2. The contribution of de novo coding mutations to autism spectrum disorder 2014
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  3. An integrated map of structural variation in 2 504 human genomes 2015
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    Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we constructed using short-read DNA sequencing data and statistical…

  4. Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions 2015
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  5. Genome structural variation discovery and genotyping 2011
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  6. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci 2015
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  7. Mapping copy number variation by population scale genome sequencing 2011
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  8. Mapping and sequencing of structural variation from eight human genomes 2008
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  9. Mapping and sequencing of structural variation from eight human genomes 2008
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  10. Fine-scale structural variation of the human genome 2005
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  11. Personalized copy number and segmental duplication maps using next generation sequencing 2009
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  12. Diversity of Human Copy Number Variation and Multicopy Genes 2010
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    Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for duplications as small…

Akademisyenler

82 akademisyen