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Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencingNARA Subscribed
Lynch syndrome, the most common hereditary cancer syndrome, is caused by germline pathogenic variants in DNA mismatch repair (MMR) genes. Identifying complex or structural MMR gene pathogenic variants can be challenging with short-read sequencing resulting in patients with unexplained MMR-deficient tumours. In this study, we report multiple members of a family who developed MSH2-deficient tumours where clinical multi-gene pane...
Expansion From Lowland Pleistocene Refugia Followed by Cryptic Introgression in an African Elevational Generalist BirdNARA Subscribed
The immense biodiversity observed in tropical forests has inspired the study of evolution since its inception, and numerous hypotheses have been generated to explain this diversity. One major driver of tropical forest biodiversity has been the repeated climatic fluctuations due to the Pleistocene glacial cycles. The Afrotropics are one region that has seen a particularly rich debate about the origin of its avifauna. Lowland an...
FishSounds Versions 2 and 3: Achieving the Largest Global Database of Fish Sound ProductionNARA Subscribed
Motivation Fish sounds are integral to a variety of ecological functions, including reproduction, predator–prey interactions and recruitment, with ever‐growing interest in their relationships to anthropogenic impacts and applications for passive acoustic monitoring. Until recently, however, fish sound production data were often not easily accessible, limiting research, management and public awareness. FishSounds.net launched i...
The future of gender research in small‐scale fisheries: Priorities and pathways for advancing gender equityNARA Subscribed
This paper presents an agenda for the future of gender research in small‐scale fisheries (SSF). Building on expert insight from scholars who gathered during the 4th World Small‐Scale Fisheries Congress Africa (4WSFC) with a synthesis of existing literature, we identify six topics that warrant future investigation in SSF, along with methodological considerations for addressing them. Research priorities include identifying pathw...
Demonstrating the reliability of in vivo metabolomics based chemical grouping: towards best practiceNARA Subscribed
While grouping/read-across is widely used to fill data gaps, chemical registration dossiers are often rejected due to weak category justifications based on structural similarity only. Metabolomics provides a route to robust chemical categories via evidence of shared molecular effects across source and target substances. To gain international acceptance, this approach must demonstrate high reliability, and best-practice guidanc...
Championing inclusive terminology in ecology and evolutionNARA Subscribed