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Genome annotation: From human genetics to biodiversity genomics
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The number of protein-coding genes for each species is reasonably well-established for all species used in this analysis.
“The number of protein-coding genes for each species is reasonably well-established for all the species used in this analysis (Tiessen et al. 2012, Guigó, 2023).”
From Annotation matters: the effect of structural gene annotation on orthology inference (2025) · cites this paper as Guigó, 2023
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Opportunities and challenges in long-read sequencing data analysis
Amarasinghe, S. L., Su, S., Dong, X., Zappia, L., Ritchie, M. E., & Gouil, Q. (2020) · Genome Biology · doi:10.1186/s13059-020-1935-5 · Cited by 2,530
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The Geuvadis Consortium, Lappalainen, T., Sammeth, M., Friedländer, M. R., ‘t Hoen, P. A. C., Monlong, J., Rivas, M. A., Gonzàlez-Porta, M., Kurbatova, N., Griebel, T., et al. (2013) · Nature · doi:10.1038/nature12531 · Cited by 1,888
Self-citationA copy number variation map of the human genome
Zarrei, M., MacDonald, J. R., Merico, D., & Scherer, S. W. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3871 · Cited by 921
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Frazer, J., Notin, P., Dias, M., Gomez, A., Min, J. K., Brock, K., Gal, Y., & Marks, D. S. (2021) · Nature · doi:10.1038/s41586-021-04043-8 · Cited by 791
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 · doi:10.1038/s41586-022-04558-8 · Cited by 571 · cited 1×
“In principle, the number of protein-coding genes encoding long open reading frames (ORFs) in the human genome is not likely to depart much from these estimates, and collaborative efforts have been initiated to converge upon a reference set of human protein-coding genes.(36,37) However, it remains unknown whether the h…”
BackgroundSingh, M., Al-Eryani, G., Carswell, S., Ferguson, J. M., Blackburn, J., Barton, K., Roden, D., Luciani, F., Giang Phan, T., Junankar, S., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-11049-4 · Cited by 308
Transcriptome in vivo analysis (TIVA) of spatially defined single cells in live tissue
Lovatt, D., Ruble, B. K., Lee, J., Dueck, H., Kim, T. K., Fisher, S., Francis, C., Spaethling, J. M., Wolf, J. A., Grady, M. S., et al. (2014) · Nature Methods · doi:10.1038/nmeth.2804 · Cited by 287
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 · doi:10.1186/gb-2013-14-7-r70 · Cited by 266
High throughput error corrected Nanopore single cell transcriptome sequencing
Lebrigand, K., Magnone, V., Barbry, P., & Waldmann, R. (2020) · Nature Communications · doi:10.1038/s41467-020-17800-6 · Cited by 236
Integrating gene annotation with orthology inference at scale
Kirilenko, B. M., Munegowda, C., Osipova, E., Jebb, D., Sharma, V., Blumer, M., Morales, A. E., Ahmed, A.-W., Kontopoulos, D.-G., Hilgers, L., et al. (2023) · Science · doi:10.1126/science.abn3107 · Cited by 209
Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue
Hardwick, S. A., Hu, W., Joglekar, A., Fan, L., Collier, P. G., Foord, C., Balacco, J., Lanjewar, S., Sampson, M. M., Koopmans, F., et al. (2022) · Nature Biotechnology · doi:10.1038/s41587-022-01231-3 · Cited by 119
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Annotation matters: the effect of structural gene annotation on orthology inference
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Malovichko, Y. V., Bein, B., Gonzales-Irribarren, A., Leushkin, E., Hilgers, L., Stephen, A., Yi, X., Albertini, M., Stadager, T., Zumpt, M., et al. (2026) · doi:10.64898/2026.06.30.735536 · Cited by 5
Metadata
- Authors
- Guigó, R.
- ORCID
- Guigó, Roderic
- Venue
- Cell Genomics
- Publisher
- Elsevier BV
- Published
- 2023-08
- Volume
- 3
- Issue
- 8
- Pages
- 100375
- ISSN
- 2666-979X
- PMC
- PMC10435374
- Cited by
- 49
- References
- 11
- Language
- en
- Licence
- Funders
- Ministerio de Ciencia e Innovación
- Institut d'Estudis Catalans
- European Bioinformatics Institute
- Generalitat de Catalunya
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