Background: Thoracic aortic aneurysms enlarge silently and can cause fatal aortic dissection without timely surgical repair, underscoring the need for improved approaches to identify individuals at high risk. Rare pathogenic variants in established heritable thoracic aortic disease (HTAD) genes explain only a subset of...
David R. Murdock, Pu-Jun Guan, Dong-Chuan Guo et al.· medRxiv· 0 citations
PURPOSE
Copy number variants (CNVs) are implicated in many health conditions. Chromosomal microarray (CMA) has traditionally been the first-tier test for CNV detection. However, exome and genome sequencing (ES/GS) can identify CNVs alongside other variant types. This study compared CNV detection using CMA versus ES/GS...
Sarah R. Poll, F. Facio, K. McWalter et al.· Genetics in Medicine· 0 citations
The strongest evidence for aortic involvement was observed for DNMT3A, NF1, PTPN11, PPP1CB, NSD1, ANKRD11, ADNP, and ABL1, including significant rare-variant burden associations for three of these genes.
D. Murdock, B. McGivern, D. Guo et al.· medRxiv· 0 citations
This study finds that rare variants across hundreds of genes contribute to autism with variable phenotypic outcomes, and clusters them based on association evidence from large-scale studies of developmental disorders, schizophrenia, bipolar disorder, and epilepsy.
F. Satterstrom, C. Auwerx, J.-M. Fu et al.· medRxiv· 1 citation
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