3 research outputs found
Recommended from our members
The contribution of X-linked coding variation to severe developmental disorders
Abstract: Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bias. We develop an improved strategy to detect X-linked developmental disorders and identify 23 significant genes, all of which were previously known, consistent with our inference that the vast majority of the X-linked burden is in known developmental disorder-associated genes. Importantly, we estimate that, in male probands, only 13% of inherited rare missense variants in known developmental disorder-associated genes are likely to be pathogenic. Our results demonstrate that statistical analysis of large datasets can refine our understanding of modes of inheritance for individual X-linked disorders
Tracing the world's timber: The status of scientific verification technologies for species and origin identification
Summary Illegal logging and illegal timber trade is a global problem. Anatomical, genetic, and chemical techniques support illegal logging legislation by verifying the species and geographic origin of timber. In principle, these methods can be used to identify timber species and the origin of harvest, however, the availability of specific tests for important timber species is unclear. We review the status of these methods for the top 322 global priority timber taxa. Our results show that for species identification, reference data exist for 100% of taxa using wood anatomy, 86% using genetics, 41% for using DART TOFMS, and 6% using NIRS. For origin identification, data exist for 24% of taxa, with most studies applying genetic approaches (23%). No studies have developed forensic-ready tests for the global priority timber taxa. The review highlights that the current potential for identifying species is greater than for geographic origin and more research focused on determining the geographical origin of timber is required. Based on the current rate, it will take approx. 27 years to generate geographic data for all 322 priority taxa. Finally, we identify research opportunities to improve global timber tracing efforts. Our findings indicate more research is needed, and quickly so that scientific verification can support regulators to combat illegal logging. Keyword
Appendices to IAWA 2214
Detailed description of the literature search methods and the results of the searches