Gencode: comprehensive reference genome annotation for human and mouse

Active Cooperative Agreement Awarded Last action

Award ID
U24HG007234
Recipient
Awarding agency
Obligated
$31,673,338

Award facts

Assistance listing
93.172 Human Genome Research
Completion date 83% complete
Originally
Funding
  • $28,700,170.68 Federal
  • $2,973,167.00 Non-federal
Place of performance
Great Britain, United Kingdom

Award details come from USAspending.gov.

Description

Abstract
The gencode consortium creates foundational reference genome annotation for the human and mouse genomes in which all features are identified and classified with high accuracy based on biological evidence, and then freely released for the benefit of biomedical research and genome interpretation. Gencode seeks to create annotation that increases the understanding of genome function in both human and mouse by prioritizing human disease genes and respecting the role of mouse as the major mammalian model organism. To effectively annotate genomes, gencode has created a suite of tools and draws on deep expertise across its partners across four fundamental components: 1) a comprehensive gene annotation pipeline leveraging manual and computational annotation; 2) a set of computational methods to evaluate and enhance gene annotation; 3) experimental pipelines targeted to expressed sequences less detectable in standard protocols; and 4) a machine learning capacity to improve all facets of the project. Gencode will maintain a major focus on protein-coding and non-coding loci, including their alternatively spliced isoforms and pseudogenes and will extend expert manual review to small non-coding rnas (ncrna) and the annotation of non-polyadenylated transcripts. Gencode will also expand regulatory annotation to a defined set of gene-associated features to more accurately reflect the interconnections between regulatory regions, including those with transcribed sequences such as ncrna, and overall transcriptional output. Gencode will take advantage of the increasing maturity of genomics technology including long-read transcriptome sequencing, functional genomics assays, and graph- based genome representations to identify features such as genes, pseudogenes, exons and splice sites that are incorrect, incomplete or in genome regions simply not present in the current reference assembly. More specifically, in the next four years gencode plans to 1) extend its human and mouse gene sets to as near completion as possible given available data and current experimental technology; 2) leverage new, high-quality human genome assemblies and targeted transcriptomic data to expand representation so that more human haplotypes will have high-quality annotation 3) annotate gene-associated regulatory regions including enhancer- promoter connections 4) collaborate with other resources to ensure a consistent representation of genic and regulatory features and reference transcripts for reporting clinical variation; and 5) distribute gencode annotations and engage with community annotation efforts to ensure accuracy and consistency. Primary gencode data will continue to be available from the ensembl and ucsc genome browsers and the gencode web site. We will develop new mechanisms for effective two-way outreach, training and communication with the community with the long-term aim of establishing gencode as the standard annotation set for research and clinical genomics applications.

Transactions

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Original award $2,973,167 $2,973,167
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Subawards

Subrecipient Amount Awarded
Massachusetts Institute Of Technology The MIT subcontract will be responsible for the development and application of computational tools to identify human and mouse genes, exons, pseudogenes, and… $71,136
Regents Of The University Of Michigan Non-canonical open reading frames (ncORFs) are increasingly recognized for their roles in disease, including germline disorders, familial cancers, and… $224,384
University Of California Santa Cruz Year 1 Subaward Agreement. $192,848
Yale Univ Year 1 subaward agreement. $165,182
Fundacio Centre De Regulacio Genomica The CRG group has been an active participant in the GENCODE consortium, making significant contributions to the understanding of human genetic diversity and its… $254,806
Yale Univ Our objective is to construct a population-based genome annotation using a graph representation, and to improve the annotations for the pseudogenes as well as… $220,699
University Of California Santa Cruz UCSC has been an active member of the GENCODE consortium since its inception. In this next year of the grant we plan to: - Continue to update and maintain… $246,308
Massachusetts Institute Of Technology The MIT subcontract will be responsible for two aspects. (1) First, for the development and application of computational tools to identify human genes, based on… $164,498
The Leland Stanford Junior University We have developed ProCapNet, a deep learning model that deciphers the sequence syntax of base-resolution transcription initiation profiles. We will be using… $190,924
Fundacion Centro Nacional De Investigaciones Oncologicas Carlos III The CNIO will continue to work with data from proteomics pipelines to validate gene models to discover further coding genes and transcripts novel to GENCODE. We… $97,948

Quick answers

Who received award U24HG007234?

U24HG007234 was awarded to European Molecular Biology Laboratory by National Human Genome Research Institute (National Institutes of Health) on April 1, 2013.

How much is award U24HG007234 worth?

$31,673,338 has been obligated on U24HG007234: $28,700,171 in federal funding and $2,973,167 in non-federal funding.

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