Frankish, Adam

GENCODE: The reference human genome annotation for The ENCODE Project

Harrow, J., Frankish, A., Gonzalez, J. M., Tapanari, E., Diekhans, M., Kokocinski, F., Aken, B. L., Barrell, D., Zadissa, A., Searle, S., et al. (2012) · Genome Research

Genomics and Phylogenetic StudiesRNA Research and Splicing

Cited by 4,585

Ensembl 2018

Zerbino, D. R., Achuthan, P., Akanni, W., Amode, M. R., Barrell, D., Bhai, J., Billis, K., Cummins, C., Gall, A., Girón, C. G., et al. (2018) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBioinformatics and Genomic Networks

Cited by 2,605

Expanded encyclopaedias of DNA elements in the human and mouse genomes

The ENCODE Project Consortium, Abascal, F., Acosta, R., Addleman, N. J., Adrian, J., Afzal, V., Ai, R., Aken, B., Akiyama, J. A., Jammal, O. A., et al. (2020) · Nature

Genomics and Chromatin DynamicsEpigenetics and DNA Methylation

Cited by 2,378

Ensembl 2022

Cunningham, F., Allen, J. E., Allen, J., Alvarez-Jarreta, J., Amode, M. R., Armean, I. M., Austine-Orimoloye, O., Azov, A. G., Barnes, I., Bennett, R., et al. (2022) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBioinformatics and Genomic Networks

Cited by 1,923

GENCODE 2021

Frankish, A., Diekhans, M., Jungreis, I., Lagarde, J., Loveland, J. E., Mudge, J. M., Sisu, C., Wright, J. C., Armstrong, J., Barnes, I., et al. (2021) · Nucleic Acids Research

Genomics and Phylogenetic StudiesRNA Research and Splicing

Cited by 1,334

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,272

The DNA sequence of the human X chromosome

Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., et al. (2005) · Nature

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesChromosomal and Genetic Variations

Cited by 1,129

A draft human pangenome reference.

Liao, W.-W., Asri, M., Ebler, J., Doerr, D., Haukness, M., Hickey, G., Lu, S., Lucas, J. K., Monlong, J., Abel, H. J., et al. (2023) · Nature

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 1,129

Ensembl 2019

Cunningham, F., Achuthan, P., Akanni, W., Allen, J., Amode, M. R., Armean, I. M., Bennett, R., Bhai, J., Billis, K., Boddu, S., et al. (2019) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBioinformatics and Genomic Networks

Cited by 925

Ensembl 2024

Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., et al. (2024) · Nucleic Acids Research

Genomics and Phylogenetic StudiesGenetics, Bioinformatics, and Biomedical Research

Cited by 742

GENCODE: producing a reference annotation for ENCODE

Harrow, J., Denoeud, F., Frankish, A., Reymond, A., Chen, C.-K., Chrast, J., Lagarde, J., Gilbert, J. G., Storey, R., Swarbreck, D., et al. (2006) · Genome Biology

Genomics and Phylogenetic StudiesRNA Research and Splicing

Cited by 648

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

Morales, J., Pujar, S., Loveland, J. E., Astashyn, A., Bennett, R., Berry, A., Cox, E., Davidson, C., Ermolaeva, O., Farrell, C. M., et al. (2022) · Nature

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 571

Pangenome graph construction from genome alignments with Minigraph-Cactus

Hickey, G., Monlong, J., Ebler, J., Novak, A. M., Eizenga, J. M., Gao, Y., Human Pangenome Reference Consortium, Abel, H. J., Antonacci-Fulton, L. L., Asri, M., et al. (2024) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 343

Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci

Lilue, J., Doran, A. G., Fiddes, I. T., Abrudan, M., Armstrong, J., Bennett, R., Chow, W., Collins, J., Collins, S., Czechanski, A., et al. (2018) · Nature Genetics

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 267

Transcriptome analysis of human tissues and cell lines reveals one dominant transcript per gene

Gonzàlez-Porta, M., Frankish, A., Rung, J., Harrow, J., & Brazma, A. (2013) · Genome Biology

RNA Research and SplicingGenomics and Phylogenetic Studies

Cited by 266

A spatially resolved brain region- and cell type-specific isoform atlas of the postnatal mouse brain

Joglekar, A., Prjibelski, A., Mahfouz, A., Collier, P., Lin, S., Schlusche, A. K., Marrocco, J., Williams, S. R., Haase, B., Hayes, A., et al. (2021) · Nature Communications

RNA Research and SplicingSingle-cell and spatial transcriptomics

Cited by 229

Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation

Pujar, S., O’Leary, N. A., Farrell, C. M., Loveland, J. E., Mudge, J. M., Wallin, C., Girón, C. G., Diekhans, M., Barnes, I., Bennett, R., et al. (2018) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBiomedical Text Mining and Ontologies

Cited by 147

Recombination between heterologous human acrocentric chromosomes

Guarracino, A., Buonaiuto, S., de Lima, L. G., Potapova, T., Rhie, A., Koren, S., Rubinstein, B., Fischer, C., Human Pangenome Reference Consortium, Abel, H. J., et al. (2023) · Nature

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 134

Shotgun proteomics aids discovery of novel protein-coding genes, alternative splicing, and “resurrected” pseudogenes in the mouse genome

Brosch, M., Saunders, G. I., Frankish, A., Collins, M. O., Yu, L., Wright, J., Verstraten, R., Adams, D. J., Harrow, J., Choudhary, J. S., et al. (2011) · Genome Research

Advanced Proteomics Techniques and ApplicationsGenomics and Phylogenetic Studies

Cited by 130

Quantifying the mechanisms of domain gain in animal proteins

Buljan, M., Frankish, A., & Bateman, A. (2010) · Genome Biology

Chromosomal and Genetic VariationsGenomics and Phylogenetic Studies

Cited by 112

Increased mutation and gene conversion within human segmental duplications

Vollger, M. R., Dishuck, P. C., Harvey, W. T., DeWitt, W. S., Guitart, X., Goldberg, M. E., Rozanski, A. N., Lucas, J., Asri, M., Human Pangenome Reference Consortium, et al. (2023) · Nature

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 104

Comparative proteomics reveals a significant bias toward alternative protein isoforms with conserved structure and function

Ezkurdia, I., del Pozo, A., Frankish, A., Rodriguez, J. M., Harrow, J., Ashman, K., Valencia, A., & Tress, M. L. (2012) · Molecular Biology and Evolution

Advanced Proteomics Techniques and ApplicationsRNA Research and Splicing

Cited by 89

Discovery of high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci

Mudge, J. M., Jungreis, I., Hunt, T., Gonzalez, J. M., Wright, J. C., Kay, M., Davidson, C., Fitzgerald, S., Seal, R., Tweedie, S., et al. (2019) · Genome Research

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 80

Widespread variation in molecular interactions and regulatory properties among transcription factor isoforms

Lambourne, L., Mattioli, K., Santoso, C., Sheynkman, G., Inukai, S., Kaundal, B., Berenson, A., Spirohn-Fitzgerald, K., Bhattacharjee, A., Rothman, E., et al. (2025) · Molecular Cell

Genomics and Chromatin DynamicsGene Regulatory Network Analysis

Cited by 42