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A Chromosome Inversion Creates a Supergene for Sex and Colour in Lake Malawi CichlidsNARA Subscribed
Cichlid fishes have the highest rates of evolutionary turnover of sex chromosomes among vertebrates. Many large structural polymorphisms in the radiation of cichlids in Lake Malawi are associated with sex chromosomes and may also carry adaptive variation. Here, we investigate the structure and evolutionary history of an inversion polymorphism that includes both a ZW sex locus and an orange‐blotch colour polymorphism in the roc...
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challengeNARA Subscribed
Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of NDDs pose a formidable challenge, given their multifaceted genetic architecture and heterogeneous clinical presentations. This work delves into the intricate interplay between genetic varian...
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)NARA Subscribed
The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to predict phenotypes based on the sequences of 74 genes (VCF format) in 415 pediatri...
Protecting pollinators and our food supply: understanding and managing threats to pollinator healthNARA Subscribed
Global pollinator declines threaten food production and natural ecosystems. The drivers of declines are complicated and driven by numerous factors such as pesticide use, loss of habitat, rising pathogens due to commercial bee keeping and climate change. Halting and reversing pollinator declines will require a multidisciplinary approach and international cooperation. Here, we summarize 20 presentations given in the symposium ‘P...