Sequence annotation

Sequence annotation is the process of marking specific features in a DNA, RNA or protein sequence with descriptive information about structure or function.

Latest Research and Reviews

Research
09 May 2022 | Open Access

Inferring intelligence of ancient people based on modern genomic studies
- Kaisar Dauyey
- & Naruya Saitou
Journal of Human Genetics, 1-6
Research
27 April 2022 | Open Access

Leveraging omic features with F3UTER enables identification of unannotated 3’UTRs for synaptic genes

3’ untranslated regions (3’UTRs) play a crucial role in regulating gene expression, but our 3’UTR catalogue is incomplete. Here, the authors develop a machine learning-based framework to predict previously unannotated 3’UTRs in 39 human tissues.
- Siddharth Sethi
- , David Zhang
- & Juan A. Botia
Nature Communications 13, 2270
Research
27 April 2022 | Open Access

Chromosome-encoded IpaH ubiquitin ligases indicate non-human enteroinvasive Escherichia
- Natalia O. Dranenko
- , Maria N. Tutukina
- & Olga O. Bochkareva
Scientific Reports 12, 6868
Research
06 April 2022 | Open Access

A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

Matched Annotation from NCBI and EMBL-EBI (MANE) delivers joint transcript sets from Ensembl/GENCODE and RefSeq for standardizing variant reporting in clinical genomics and research.
- Joannella Morales
- , Shashikant Pujar
- & Terence D. Murphy
Nature 604, 310-315
Research | 08 February 2022

Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels
- Nihat Bugra Agaoglu
- , Busra Unal
- & Levent Doganay
European Journal of Human Genetics 30, 378-383
Research
19 January 2022 | Open Access

Identification of putative essential protein domains from high-density transposon insertion sequencing
- A. S. M. Zisanur Rahman
- , Lukas Timmerman
- & Silvia T. Cardona
Scientific Reports 12, 962

All Research & Reviews

News and Comment

Comments & Opinion | 09 September 2020

The UCSC SARS-CoV-2 Genome Browser

The UCSC SARS-CoV-2 Genome Browser (https://genome.ucsc.edu/covid19.html) is an adaptation of our popular genome-browser visualization tool for this virus, containing many annotation tracks and new features, including conservation with similar viruses, immune epitopes, RT–PCR and sequencing primers and CRISPR guides. We invite all investigators to contribute to this resource to accelerate research and development activities globally.
- Jason D. Fernandes
- , Angie S. Hinrichs
- & Maximilian Haeussler
Nature Genetics 52, 991-998
Comments & Opinion | 03 August 2020

Guidelines for human gene nomenclature

Standardized gene naming is crucial for effective communication about genes, and as genomics becomes increasingly important in health care, the need for a consistent language to refer to human genes becomes ever more essential. Here, we present the current HUGO Gene Nomenclature Committee (HGNC) guidelines for naming not only protein-coding genes but also RNA genes and pseudogenes, and we outline the changes in approach and ethos that have resulted from the discoveries of the past few decades.
- Elspeth A. Bruford
- , Bryony Braschi
- & Susan Tweedie
Nature Genetics 52, 754-758
Research Highlights | 30 May 2019

Comparing trajectory inference methods
- Nicole Rusk
Nature Methods 16, 459
Correspondence | 16 October 2017

MMseqs2 enables sensitive protein sequence searching for the analysis of massive data sets
- Martin Steinegger
- & Johannes Söding
Nature Biotechnology 35, 1026-1028
Research Highlights | 29 September 2017

A human tRNA atlas

Nature Methods 14, 943
Research Highlights | 31 March 2017

DNA variants or DNA damage?

Cryptic, widespread DNA damage is commonly interpreted as sequence variation.
- Tal Nawy
Nature Methods 14, 341

All News & Comment

Sequence annotation

Latest Research and Reviews

Inferring intelligence of ancient people based on modern genomic studies

Leveraging omic features with F3UTER enables identification of unannotated 3’UTRs for synaptic genes

Chromosome-encoded IpaH ubiquitin ligases indicate non-human enteroinvasive Escherichia

A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels

Identification of putative essential protein domains from high-density transposon insertion sequencing

News and Comment

The UCSC SARS-CoV-2 Genome Browser

Guidelines for human gene nomenclature

Comparing trajectory inference methods

MMseqs2 enables sensitive protein sequence searching for the analysis of massive data sets

A human tRNA atlas

DNA variants or DNA damage?

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