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Walls, R.

Publications and source records attributed to Walls, R..

3 recordsLinked to original sources

Dysfunction of a SET3-like complex underlies a family of related neurological disorders

TBLR1 is a subunit of the NCoR corepressor complex that is mutated in a range of neurodevelopmental disorders. Here, we report that TBLR1 functions as a molecular scaffold that physically connects ANKRD11 and SETD5 - two of the most frequently mutated proteins in neurodevelopmental disorders - and links them to the rest of the NCoR complex. The resulting assembly resembles the yeast SET3 complex (SET3C) - a transcriptional regulator. Pathogenic missense mutations in TBLR1, ANKRD11 and SETD5 disrupt this assembly, and an engineered mutation that specifically abolishes SETD5 incorporation into SET3C causes severe developmental impairments in mice. Disruptions of mammalian SET3C components cause highly correlated changes in gene expression - including upregulation of already highly transcribed genes. Together, our results reveal that failure of transcriptional regulation by SET3C is a convergent molecular basis for a family of neurodevelopmental disorders.

molecular biology↗

PhenoVision: A framework for automating and delivering research-ready plant phenology data from field images

Plant phenology plays a fundamental role in shaping ecosystems, and global change-induced shifts in phenology have cascading impacts on species interactions and ecosystem structure and function. Detailed, high-quality observations of when plants undergo seasonal transitions such as leaf-out, flowering, and fruiting are critical for tracking causes and consequences of phenology shifts, but these data are often sparse and biased globally. These data gaps limit broader generalizations and forecasting improvements in the face of continuing disturbance. One solution to closing such gaps is to document phenology on field images taken by public participants. iNaturalist, in particular, provides global scale research-grade data and is expanding rapidly. Here we utilize over 53 million field images of plants and millions of human annotations from iNaturalist - data spanning all angiosperms and drawn from across the globe - to train a computer vision model (PhenoVision) to detect the presence of fruits and flowers. PhenoVision utilizes a vision transformer architecture pretrained with a masked autoencoder to improve classification success, and it achieves high accuracy for flower (98.5%) and fruit presence (95%). Key to producing research-ready phenology data is post-calibration tuning and validation focused on reducing noise inherent in field photographs, and maximizing the true positive rate. We also develop a standardized set of quality metrics and metadata so that results can be used effectively by the community. Finally, we showcase how this effort vastly increases phenology data coverage, including regions of the globe where data have been limited before. Our end products are tuned models, new data resources, and an application streamlining discovery and use of those data for the broader research and management community. We close by discussing next steps, including automating phenology annotations, adding new phenology targets, e.g., leaf phenology, and further integration with other resources to form a global central database integrating all in-situ plant phenology resources.

ecology↗

CyVerse: Cyberinfrastructure for Open Science

CyVerse, the largest publicly-funded open-source research cyberinfrastructure for life sciences, has played a crucial role in advancing data-driven research since the 2010s. As the technology landscape evolved with the emergence of cloud computing platforms, machine learning and artificial intelligence (AI) applications, CyVerse has enabled access by providing interfaces, Software as a Service (SaaS), and cloud-native Infrastructure as Code (IaC) to leverage new technologies. CyVerse services enable researchers to integrate institutional and private computational resources, custom software, perform analyses, and publish data in accordance with open science principles. Over the past 13 years, CyVerse has registered more than 110,000 verified accounts from 160 countries and was used for over 1,600 peer-reviewed publications. Since 2011, 45,000 students and researchers have been trained to use CyVerse. The platform has been replicated and deployed in two countries outside the US, with additional private deployments on commercial clouds for US government agencies and multinational corporations. In this manuscript, we present a strategic blueprint for creating and managing SaaS cyberinfrastructure and IaC as free and open-source software.

scientific communication and education↗