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1.
Nucleic Acids Res ; 51(22): 12054-12068, 2023 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-37933851

RESUMO

Confidence in experimental results is critical for discovery. As the scale of data generation in genomics has grown exponentially, experimental error has likely kept pace despite the best efforts of many laboratories. Technical mistakes can and do occur at nearly every stage of a genomics assay (i.e. cell line contamination, reagent swapping, tube mislabelling, etc.) and are often difficult to identify post-execution. However, the DNA sequenced in genomic experiments contains certain markers (e.g. indels) encoded within and can often be ascertained forensically from experimental datasets. We developed the Genotype validation Pipeline (GenoPipe), a suite of heuristic tools that operate together directly on raw and aligned sequencing data from individual high-throughput sequencing experiments to characterize the underlying genome of the source material. We demonstrate how GenoPipe validates and rescues erroneously annotated experiments by identifying unique markers inherent to an organism's genome (i.e. epitope insertions, gene deletions and SNPs).


Assuntos
Genômica , Genótipo , Genoma , Genômica/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA/métodos , Conjuntos de Dados como Assunto
2.
Methods Mol Biol ; 1757: 21-30, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29761454

RESUMO

The Saccharomyces Genome Database (SGD) is a well-established, key resource for researchers studying Saccharomyces cerevisiae. In addition to updating and maintaining the official genomic sequence of this highly studied organism, SGD provides integrated data regarding gene functions and phenotypes, which are extracted from the published literature. The vast amount and variety of data housed in the database can prove challenging to navigate for the first-time user. Therefore, this chapter serves as an introduction describing how to search the database in order to discover new information. We introduce the different types of pages on the website, and describe how to manipulate the tables and diagrams therein to display, download, or analyze the data using various SGD tools.


Assuntos
Bases de Dados Genéticas , Genoma Fúngico , Genômica , Saccharomyces/genética , Biologia Computacional/métodos , Ontologia Genética , Genes Fúngicos , Genômica/métodos , Anotação de Sequência Molecular , Fenótipo , Software , Navegador
3.
Database (Oxford) ; 2017(1)2017 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-28365719

RESUMO

The Saccharomyces Genome Database (SGD; www.yeastgenome.org ), the primary genetics and genomics resource for the budding yeast S. cerevisiae , provides free public access to expertly curated information about the yeast genome and its gene products. As the central hub for the yeast research community, SGD engages in a variety of social outreach efforts to inform our users about new developments, promote collaboration, increase public awareness of the importance of yeast to biomedical research, and facilitate scientific discovery. Here we describe these various outreach methods, from networking at scientific conferences to the use of online media such as blog posts and webinars, and include our perspectives on the benefits provided by outreach activities for model organism databases. Database URL: http://www.yeastgenome.org.


Assuntos
Pesquisa Biomédica/educação , Bases de Dados Genéticas , Genoma Fúngico , Saccharomyces cerevisiae/genética , Blogging , Congressos como Assunto
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