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Fernandez, M.

Publications and source records attributed to Fernandez, M..

2 recordsLinked to original sources

Finding the signal in the noise of Citizen Science Observations

While many observations of species are being collected by citizen science projects worldwide, it can be challenging to identify projects collecting data that effectively monitor biodiversity. Over the past several years the allure of taking a \"Big Data\" approach has provided the opportunity to gather massive quantities of observations via the Internet, too often with insufficient information to describe how the observations were made. Information about species populations -- where and when they occur and how many of them are there -- (i.e., the signal) can be lost because insufficient information is gathered to account for the inherent biases in data collection (i.e., the noise). Here we suggest that citizen science projects that have succeeded in motivating large numbers of participants, must consider factors that influence the ecological process that affect species populations as well as the observation process that determines how observations are made. Those citizen science projects that collect sufficient contextual information describing the observation process can be used to generate increasingly accurate information about the distribution and abundance of organisms. We illustrate this using eBird as a case study, describing how this citizen science platform is able to collect vital contextual information on the observation process while maintaining a broad global constituency of participants. We highlight how eBird provides information with which to generate biodiversity indicators -- specifically distribution, abundance, and habitat associations -- across the entire annual cycle, even for populations of long distance migratory birds, a highly challenging taxon.

ecology

A common haplotype lowers SPI1 (PU.1) expression in myeloid cells and delays age at onset for Alzheimer’s disease

In this study we used age at onset of Alzheimers disease (AD), cerebrospinal fluid (CSF) biomarkers, and cis-expression quantitative trait loci (cis-eQTL) datasets to identify candidate causal genes and mechanisms underlying AD GWAS loci. In a genome-wide survival analysis of 40,255 samples, eight of the previously reported AD risk loci are significantly (P < 5x10-8) or suggestively (P < 1x10-5) associated with age at onset-defined survival (AAOS) and a further fourteen novel loci reached suggestive significance. Using stratified LD score regression we demonstrated a significant enrichment of AD heritability in hematopoietic cells of the myeloid and B-lymphoid lineage. We then investigated the impact of these 22 AAOS-associated variants on CSF biomarkers and gene expression in cells of the myeloid lineage. In particular, the minor allele of rs1057233 (G), within the previously reported CELF1 AD risk locus, shows association with higher age at onset of AD (P=8.40x10-6), higher CSF levels of A{beta}42 (P=1.2x10-4), and lower expression of SPI1 in monocytes (P=1.50x10-105) and macrophages (P=6.41x10-87). SPI1 encodes PU.1, a transcription factor critical for myeloid cell development and function. AD heritability is enriched within the SPI1 cistromes of monocytes and macrophages, implicating a myeloid PU.1 target gene network in the etiology of AD. Finally, experimentally altered PU.1 levels are correlated with phagocytic activity of BV2 mouse microglial cells and specific changes in the expression of multiple myeloid-expressed genes, including the mouse orthologs of AD-associated genes, APOE, CLU/APOJ, CD33, MS4A4A/MS4A6A, and TYROBP. Our results collectively suggest that lower SPI1 expression reduces AD risk by modulating myeloid cell gene expression and function.

neuroscience