GENCODE reference annotation for the human and mouse genomes
@article{Frankish2019GENCODERA, title={GENCODE reference annotation for the human and mouse genomes}, author={A. Frankish and M. Diekhans and Anne-Maud Ferreira and R. Johnson and Irwin Jungreis and J. Loveland and J. Mudge and Cristina Sisu and J. Wright and J. Armstrong and I. Barnes and A. E. Berry and Alexandra Bignell and Silvia Carbonell Sala and J. Chrast and F. Cunningham and T. D. Domenico and Sarah M. Donaldson and I. Fiddes and C. Garc{\'i}a-Gir{\'o}n and Jose M. Gonzalez and Tiago Grego and M. Hardy and Thibaut Hourlier and T. Hunt and Osagie G. Izuogu and J. Lagarde and F. Martin and Laura Mart{\'i}nez and S. Mohanan and P. Muir and Fabio C. P. Navarro and A. Parker and B. Pei and F. Pozo and M. Ruffier and Bianca M. Schmitt and Eloise Stapleton and M. Suner and I. Sycheva and Barbara Uszczynska-Ratajczak and Jinuri Xu and Andrew D. Yates and D. Zerbino and Y. Zhang and B. Aken and J. Choudhary and M. Gerstein and R. Guig{\'o} and T. Hubbard and Manolis Kellis and B. Paten and A. Reymond and M. Tress and P. Flicek}, journal={Nucleic Acids Research}, year={2019}, volume={47}, pages={D766 - D773} }
Abstract The accurate identification and description of the genes in the human and mouse genomes is a fundamental requirement for high quality analysis of data informing both genome biology and clinical genomics. Over the last 15 years, the GENCODE consortium has been producing reference quality gene annotations to provide this foundational resource. The GENCODE consortium includes both experimental and computational biology groups who work together to improve and extend the GENCODE gene… CONTINUE READING
685 Citations
Lost in translation: the pitfalls of Ensembl Gene annotations between human genome assemblies and their impact on diagnostics
- Biology
- 2020
- PDF
Using multiple reference genomes to identify and resolve annotation inconsistencies
- Computer Science, Biology
- 2019
- 4
- PDF
Using multiple reference genomes to identify and resolve annotation inconsistencies
- Biology, Medicine
- BMC Genomics
- 2020
- 1
Review on the Computational Genome Annotation of Sequences Obtained by Next-Generation Sequencing
- Biology, Medicine
- Biology
- 2020
- PDF
Discovery of high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci.
- Biology, Medicine
- Genome research
- 2019
- 15
- PDF
References
SHOWING 1-10 OF 52 REFERENCES
GENCODE: the reference human genome annotation for The ENCODE Project.
- Biology, Medicine
- Genome research
- 2012
- 3,399
- PDF
Improving GENCODE reference gene annotation using a high-stringency proteogenomics workflow
- Computer Science, Medicine
- Nature communications
- 2016
- 52
- PDF
The Ensembl gene annotation system
- Computer Science, Medicine
- Database J. Biol. Databases Curation
- 2016
- 589
- PDF
Comparative Annotation Toolkit (CAT) - Simultaneous Clade and Personal Genome Annotation
- Biology, Computer Science
- Genome research
- 2018
- 30
- PDF
Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome.
- Biology, Medicine
- Genome research
- 2012
- 56
- PDF
High-throughput annotation of full-length long noncoding RNAs with Capture Long-Read Sequencing
- Biology, Medicine
- Nature Genetics
- 2017
- 117
- PDF
The GENCODE v7 catalog of human long noncoding RNAs: analysis of their gene structure, evolution, and expression.
- Biology, Medicine
- Genome research
- 2012
- 3,326
- PDF
Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation
- Biology, Medicine
- Nucleic Acids Res.
- 2018
- 21
- PDF