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Chunlei Wu

Publications and source records attributed to Chunlei Wu.

4 recordsLinked to original sources

CIViC: A knowledgebase for expert-crowdsourcing the clinical interpretation of variants in cancer.

CIViC is an expert crowdsourced knowledgebase for Clinical Interpretation of Variants in Cancer (www.civicdb.org) describing the therapeutic, prognostic, and diagnostic relevance of inherited and somatic variants of all types. CIViC is committed to open source code, open access content, public application programming interfaces (APIs), and provenance of supporting evidence to allow for the transparent creation of current and accurate variant interpretations for use in cancer precision medicine.

Cancer Biology

MyGene.info and MyVariant.info: Gene and Variant Annotation Query Services

MyGene.info and MyVariant.info provide high-performance data APIs for querying gene and variant annotation information. They demonstrate a new model for organizing biological annotation information by utilizing a cloud-based scalable infrastructure. MyGene.info and MyVariant.info can be accessed at http://mygene.info and http://myvariant.info.

Bioinformatics

Centralizing content and distributing labor: a community model for curating the very long tail of microbial genomes.

The last 20 years of advancement in DNA sequencing technologies have led to the sequencing of thousands of microbial genomes, creating mountains of genetic data. While our efficiency in generating the data improves almost daily, applying meaningful relationships between the taxonomic and genetic entities requires a new approach. Currently, the knowledge is distributed across a fragmented landscape of resources from government-funded institutions such as NCBI and Uniprot to topic-focused databases like the ODB3 database of prokaryotic operons, to the supplemental table of a primary publication. A major drawback to large scale, expert curated databases is the expense of maintaining and extending them over time. No entity apart from a major institution with stable long-term funding can consider this, and their scope is limited considering the magnitude of microbial data being generated daily. Wikidata is an, openly editable, semantic web compatible framework for knowledge representation. Its a project of the Wikimedia Foundation and offers knowledge integration capabilities ideally suited to the challenge of representing the exploding body of information about microbial genomics. We are developing a microbial specific data model, based on Wikidatas semantic web compatibility, that represents bacterial species, strains and the gene and gene products that define them. Currently, we have loaded 1736 gene items and 1741 protein items for two strains of the human pathogenic bacteria Chlamydia trachomatis and used this subset of data as an example of the empowering utility of this model. In our next phase of development we will expand by adding another 118 bacterial genomes and their gene and gene products, totaling over ~900,000 additional entities. This aggregation of knowledge will be a platform for community-driven collaboration, allowing the networking of microbial genetic data through the sharing of knowledge by both the data and domain expert.

Genomics

MyGene.info: gene annotation query as a service

Biomedical knowledge is often represented as annotations of biological entities such as genes, genetic variants, diseases, and drugs. For gene annotations, they are fragmented across data repositories like NCBI Entrez, Ensembl, UniProt, and hundreds (or more) of other specialized databases. While the volume and breadth of annotations is valuable, their fragmentation across many data silos is often frustrating and inefficient. Bioinformaticians everywhere must continuously and repetitively engage in data wrangling in an effort to comprehensively integrate knowledge from all these resources, and these uncoordinated efforts represent an enormous duplication of work. We previously released MyGene.info (http://mygene.info) to enable bioinformatics developers to gain programmatic access to gene annotation data through our high-performance web services. This article focuses on the updates to MyGene.info since our last paper (2013 database issue). With the completely re-factored system, MyGene.info now expands the support from the original nine species to over 14K species, covering >17M genes with >50 gene-specific annotation types. Two simple web service endpoints provides high-performance query access to all these aggregated gene annotations. The infrastructure underlying MyGene.info is highly scalable, which offers both high-performance and high-concurrency, and makes MyGene.info particularly suitable for the use cases of real-time applications and analysis pipelines.

Bioinformatics