Dataset Information

Biodiversity data integration-the significance of data resolution and domain.

ABSTRACT: Recent years have seen an explosion in the availability of biodiversity data describing the distribution, function, and evolutionary history of life on earth. Integrating these heterogeneous data remains a challenge due to large variations in observational scales, collection purposes, and terminologies. Here, we conceptualize widely used biodiversity data types according to their domain (what aspect of biodiversity is described?) and informational resolution (how specific is the description?). Applying this framework to major data providers in biodiversity research reveals a strong focus on the disaggregated end of the data spectrum, whereas aggregated data types remain largely underutilized. We discuss the implications of this imbalance for the scope and representativeness of current macroecological research and highlight the synergies arising from a tighter integration of biodiversity data across domains and resolutions. We lay out effective strategies for data collection, mobilization, imputation, and sharing and summarize existing frameworks for scalable and integrative biodiversity research. Finally, we use two case studies to demonstrate how the explicit consideration of data domain and resolution helps to identify biases and gaps in global data sets and achieve unprecedented taxonomic and geographical data coverage in macroecological analyses.

SUBMITTER: Konig C

PROVIDER: S-EPMC6445469 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Biodiversity data integration-the significance of data resolution and domain.

König Christian C Weigelt Patrick P Schrader Julian J Taylor Amanda A Kattge Jens J Kreft Holger H

PLoS biology 20190318 3

Recent years have seen an explosion in the availability of biodiversity data describing the distribution, function, and evolutionary history of life on earth. Integrating these heterogeneous data remains a challenge due to large variations in observational scales, collection purposes, and terminologies. Here, we conceptualize widely used biodiversity data types according to their domain (what aspect of biodiversity is described?) and informational resolution (how specific is the description?). A ...[more]

PMID: 30883539

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Project description:DUF1220 protein domains found primarily in Neuroblastoma BreakPoint Family (NBPF) genes show the greatest human lineage-specific increase in copy number of any coding region in the genome. There are 302 haploid copies of DUF1220 in hg38 (~160 of which are human-specific) and the majority of these can be divided into 6 different subtypes (referred to as clades). Copy number changes of specific DUF1220 clades have been associated in a dose-dependent manner with brain size variation (both evolutionarily and within the human population), cognitive aptitude, autism severity, and schizophrenia severity. However, no published methods can directly measure copies of DUF1220 with high accuracy and no method can distinguish between domains within a clade.Here we describe a novel method for measuring copies of DUF1220 domains and the NBPF genes in which they are found from whole genome sequence data. We have characterized the effect that various sequencing and alignment parameters and strategies have on the accuracy and precision of the method and defined the parameters that lead to optimal DUF1220 copy number measurement and resolution. We show that copy number estimates obtained using our read depth approach are highly correlated with those generated by ddPCR for three representative DUF1220 clades. By simulation, we demonstrate that our method provides sufficient resolution to analyze DUF1220 copy number variation at three levels: (1) DUF1220 clade copy number within individual genes and groups of genes (gene-specific clade groups) (2) genome wide DUF1220 clade copies and (3) gene copy number for DUF1220-encoding genes.To our knowledge, this is the first method to accurately measure copies of all six DUF1220 clades and the first method to provide gene specific resolution of these clades. This allows one to discriminate among the ~300 haploid human DUF1220 copies to an extent not possible with any other method. The result is a greatly enhanced capability to analyze the role that these sequences play in human variation and disease.

Dataset Information

Biodiversity data integration-the significance of data resolution and domain.

Publications

Biodiversity data integration-the significance of data resolution and domain.

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