Structural variation in the human genome and its role in disease.

By Pawel Stankiewicz, J. R. Lupski. Annual Review of Medicine, 2010

1,226 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/9a2c55ea82ac0918e6fd686892ff572d37dc6fd5

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In Genetics

Citations in the corpus

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. (2012, background): “This synaptic rigidity will likely account for ID in AS.”
Mutation severity spectrum of rare alleles in the human genome is predictive of disease type (2019, neutral): “2 function, and genetic instability [7-11].”
The human gene damage index as a gene-level approach to prioritizing exome variants (2015, background): “Finally, a consideration of copy number variation would also refine the calculation of the GDI (49).”
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions (2015, background): “Structural variations have received considerable attention as a major cause for genetic disease, promoting the search for CNVs as a standard diagnostic procedure in conditions such as intellectual disability and congenital malformations (Stankiewicz and Lupski, 2010; Swaminathan et al., 2012).”
Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing (2019, background): “SVs are largely responsible for the diversity and evolution of human genomes at both individual and population level [3 – 6].”
Uncovering the roles of rare variants in common disease through whole-genome sequencing (2010, background): “For example, autism, mental retardation, epilepsy and schizophrenia have been shown to be influenced by rare structural variants that affect gene”
Mapping and phasing of structural variation in patient genomes using nanopore sequencing (2017, neutral): “Moreover, SVs have been implicated in a wide range of genetic disorders 6 .”