Author details

Full Name

Adam Frankish

Affiliation

ORCID

Career Start Year

2003

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37953337	Ensembl 2024.	Nucleic Acids Res	2024
37546854	Systematic assessment of long-read RNA-seq methods for transcript identification and quantification.	bioRxiv	2023
36420896	GENCODE: reference annotation for the human and mouse genomes in 2023.	Nucleic Acids Res	2023
36318249	Ensembl 2023.	Nucleic Acids Res	2023
37794265	The status of the human gene catalogue.	Nature	2023
36715146	SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions.	Hum Mol Genet	2023
36994150	The status of the human gene catalogue.	ArXiv	2023
34820881	Non-coding regulatory elements: Potential roles in disease and the case of epilepsy.	Neuropathol Appl Neurobiol	2022
35388217	A joint NCBI and EMBL-EBI transcript set for clinical genomics and research.	Nature	2022
35831657	Standardized annotation of translated open reading frames.	Nat Biotechnol	2022
35551471	SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility.	Acta Neuropathol	2022
34634797	The Ensembl COVID-19 resource: ongoing integration of public SARS-CoV-2 data.	Nucleic Acids Res	2022
34791404	Ensembl 2022.	Nucleic Acids Res	2022
34435752	The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements.	Mol Genet Genomic Med	2021
33469025	A spatially resolved brain region- and cell type-specific isoform atlas of the postnatal mouse brain.	Nat Commun	2021
32703790	Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas.	Haematologica	2021
33137190	Ensembl 2021.	Nucleic Acids Res	2021
33270111	GENCODE 2021.	Nucleic Acids Res	2021
32728065	Transcriptional activity and strain-specific history of mouse pseudogenes.	Nat Commun	2020
31691826	Ensembl 2020.	Nucleic Acids Res	2020
32421357	Progress, Challenges, and Surprises in Annotating the Human Genome.	Annu Rev Genomics Hum Genet	2020
32126975	Expert curation of the human and mouse olfactory receptor gene repertoires identifies conserved coding regions split across two exons.	BMC Genomics	2020
31537640	Discovery of high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci.	Genome Res	2019
31814998	Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in <i>SCN1A</i>.	NPJ Genom Med	2019
30407521	Ensembl 2019.	Nucleic Acids Res	2019
30357393	GENCODE reference annotation for the human and mouse genomes.	Nucleic Acids Res	2019
31475029	Getting the Entire Message: Progress in Isoform Sequencing.	Front Genet	2019
30916337	Integrative transcriptomic analysis suggests new autoregulatory splicing events coupled with nonsense-mediated mRNA decay.	Nucleic Acids Res	2019
29795125	Towards a complete map of the human long non-coding RNA transcriptome.	Nat Rev Genet	2018
30009487	Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy.	Epilepsia	2018
30275530	Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.	Nat Genet	2018
29126148	Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation.	Nucleic Acids Res	2018
29155950	Ensembl 2018.	Nucleic Acids Res	2018
27794554	RNAcentral: a comprehensive database of non-coding RNA sequences.	Nucleic Acids Res	2017
28558813	Genome annotation for clinical genomic diagnostics: strengths and weaknesses.	Genome Med	2017
29106417	High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing.	Nat Genet	2017
26110515	Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction.	BMC Genomics	2015
24823776	GENCODE pseudogenes.	Methods in Molecular Biology	2014
24316575	The Vertebrate Genome Annotation browser 10 years on.	Nucleic Acids Res	2014
24217909	Current status and new features of the Consensus Coding Sequence database.	Nucleic Acids Res	2014
24939910	Multiple evidence strands suggest that there may be as few as 19,000 human protein-coding genes.	Hum Mol Genet	2014
25157146	Comparative analysis of pseudogenes across three phyla.	Proc Natl Acad Sci U S A	2014
25164755	Comparative analysis of the transcriptome across distant species.	Nature	2014
24172201	Functional transcriptomics in the post-ENCODE era.	Genome Research	2013
23815980	Transcriptome analysis of human tissues and cell lines reveals one dominant transcript per gene.	Genome Biol	2013
22238572	Evidence for transcript networks composed of chimeric RNAs in human cells.	PLoS One	2012
22434846	The importance of identifying alternative splicing in vertebrate genome annotation.	Database : the journal of biological databases and curation	2012
22434842	Tracking and coordinating an international curation effort for the CCDS Project.	Database (Oxford)	2012
22344438	A systematic survey of loss-of-function variants in human protein-coding genes.	Science	2012
22955987	GENCODE: the reference human genome annotation for The ENCODE Project.	Genome Res	2012