Mechanisms underlying structural variant formation in genomic disorders
CMB Carvalho, JR Lupski - Nature Reviews Genetics, 2016 - nature.com
With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …
implementation of genome-wide assays, our understanding of the molecular basis of …
Human structural variation: mechanisms of chromosome rearrangements
B Weckselblatt, MK Rudd - Trends in Genetics, 2015 - cell.com
Chromosome structural variation (SV) is a normal part of variation in the human genome, but
some classes of SV can cause neurodevelopmental disorders. Analysis of the DNA …
some classes of SV can cause neurodevelopmental disorders. Analysis of the DNA …
[HTML][HTML] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …
infrequently in the global human population and can confer substantial risk for disease. In …
Cognitive performance among carriers of pathogenic copy number variants: analysis of 152,000 UK Biobank subjects
Abstract Background The UK Biobank is a unique resource for biomedical research, with
extensive phenotypic and genetic data on half a million adults from the general population …
extensive phenotypic and genetic data on half a million adults from the general population …
Recombination initiation maps of individual human genomes
Introduction The dramatic events of meiotic recombination culminate in the exchange of
genetic information between parental chromosomes and ensure the production of …
genetic information between parental chromosomes and ensure the production of …
Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank
KM Kendall, M Bracher-Smith, H Fitzpatrick… - The British Journal of …, 2019 - cambridge.org
BackgroundRare copy number variants (CNVs) are associated with risk of
neurodevelopmental disorders characterised by varying degrees of cognitive impairment …
neurodevelopmental disorders characterised by varying degrees of cognitive impairment …
Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes
ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded
mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid …
mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid …
Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank
Background Genomic CNVs increase the risk for early-onset neurodevelopmental disorders,
but their impact on medical outcomes in later life is still poorly understood. The UK Biobank …
but their impact on medical outcomes in later life is still poorly understood. The UK Biobank …
Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak
Long-read sequencing has demonstrated great potential for characterizing all types of
structural variations (SVs). However, existing algorithms have insufficient sensitivity and …
structural variations (SVs). However, existing algorithms have insufficient sensitivity and …