Functional Annotation of the Human Genome

RefSeq curation and annotation of the human reference genome

The RefSeq project generates comprehensive genome annotation results for the reference assembly each year (approximately every 12 to 18 months).

Genome Annotation - an overview | ScienceDirect Topics

Genome annotation is the process of deriving the structural and functional information of a protein or gene from a raw data set

FAVOR: functional annotation of variants online resource ... - PubMed

They provide an unprecedented resource for illuminating the genetic basis of human diseases. Variant functional annotations play a critical role ...

FAVOR: functional annotation of variants online resource and ...

Variant functional annotation provides functional information from many different sources to elucidate the multi-faceted functions of genetic ...

DNA annotation - Wikipedia

In molecular biology and genetics, DNA annotation or genome annotation is the process of describing the structure and function of the components of a genome ...

Genome annotation: From human genetics to biodiversity genomics

This piece briefly reviews the basics of protein-coding gene prediction, discusses challenges in finalizing annotation of the human genome, and proposes ...

SNPnexus: a web server for functional annotation of human genome ...

Abstract. SNPnexus is a web-based annotation tool for the analysis and interpretation of both known and novel sequencing variations.

Functional annotation of a divergent genome using sequence and ...

Traditional functional gene annotation relies on sequence similarity between the studied species and previously characterized genes from other ...

Progress, Challenges, and Surprises in Annotating the Human ...

Also, novel sequencing-based assays shed light on novel functions of the genome, especially with respect to gene expression regulation. Keeping ...

A Statistical Framework to Predict Functional Non-Coding Regions ...

Identifying functional regions in the human genome is a major goal in human genetics. Great efforts have been made to functionally annotate ...

Functional Annotation of the Human Genome - Ross Hardison

As one of a series of activities devoted to strategic planning, NHGRI hosted a three-day workshop, From Genome to Phenotype: Genomic ...

Genome annotation: From human genetics to ... - Cell Press

While the concept of the gene is controversial,5 genes can be operationally associated to transcriptional units, i.e., loci in the. DNA sequence ...

Systematic tissue-specific functional annotation of the human ...

Continuing efforts from large international consortia have made genome-wide epigenomic and transcriptomic annotation data publicly available for a variety ...

Pig genome functional annotation enhances the biological ... - Nature

The functional annotation of livestock genomes is crucial for understanding the molecular mechanisms that underpin complex traits of ...

Human Release 47 - GENCODE

GTF / GFF3 files · It contains the basic gene annotation on the reference chromosomes only · This is a subset of the corresponding comprehensive annotation, ...

Universal annotation of the human genome through integration of ...

Genome-wide maps of chromatin marks such as histone modifications and open chromatin sites provide valuable information for annotating the ...

AWARD SUMMARY for Richard Myers, HAIB (U54HG006998)

TOWARD A COMPREHENSIVE FUNCTIONAL ANNOTATION OF THE HUMAN GENOME ... The goal of the ENCODE Project is to provide the biomedical community with a complete and ...

Functional Gene Annotation | UCL Institute of Cardiovascular Science

The UCL functional annotation team is the only group currently curating the normal role of human microRNAs using Gene Ontology. These annotations capture ...

Gene Ontology Resource

The Gene Ontology (GO) knowledgebase is the world's largest source of information on the functions of genes. This knowledge is both human-readable and machine- ...

7.13B: Annotating Genomes - Biology LibreTexts

Genome annotation is the process of attaching biological information to sequences. It consists of two main steps: identifying elements on the genome, a process ...