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Integrating gene annotation with orthology inference at scale
Max Planck Inst Mol Cell Biol & Genet, D-01307 Dresden, Germany.;Max Planck Inst Phys Komplexer Syst, D-01187 Dresden, Germany.;Ctr Syst Biol Dresden, D-01307 Dresden, Germany.;LOEWE Ctr Translat Biodivers Genom, D-60325 Frankfurt, Germany.;Senckenberg Res Inst, D-60325 Frankfurt, Germany.;Goethe Univ Frankfurt, Fac Biosci, D-60438 Frankfurt, Germany..
Max Planck Inst Mol Cell Biol & Genet, D-01307 Dresden, Germany.;Max Planck Inst Phys Komplexer Syst, D-01187 Dresden, Germany.;Ctr Syst Biol Dresden, D-01307 Dresden, Germany.;LOEWE Ctr Translat Biodivers Genom, D-60325 Frankfurt, Germany.;Senckenberg Res Inst, D-60325 Frankfurt, Germany.;Goethe Univ Frankfurt, Fac Biosci, D-60438 Frankfurt, Germany..
Max Planck Inst Mol Cell Biol & Genet, D-01307 Dresden, Germany.;Max Planck Inst Phys Komplexer Syst, D-01187 Dresden, Germany.;Ctr Syst Biol Dresden, D-01307 Dresden, Germany.;LOEWE Ctr Translat Biodivers Genom, D-60325 Frankfurt, Germany.;Senckenberg Res Inst, D-60325 Frankfurt, Germany.;Goethe Univ Frankfurt, Fac Biosci, D-60438 Frankfurt, Germany..ORCID iD: 0000-0002-6769-7223
Max Planck Inst Mol Cell Biol & Genet, D-01307 Dresden, Germany.;Max Planck Inst Phys Komplexer Syst, D-01187 Dresden, Germany.;Ctr Syst Biol Dresden, D-01307 Dresden, Germany..
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2023 (English)In: Science, ISSN 0036-8075, E-ISSN 1095-9203, Vol. 380, no 6643, p. 368-+, article id eabn3107Article in journal (Refereed) Published
Abstract [en]

Annotating coding genes and inferring orthologs are two classical challenges in genomics and evolutionary biology that have traditionally been approached separately, limiting scalability. We present TOGA (Tool to infer Orthologs from Genome Alignments), a method that integrates structural gene annotation and orthology inference. TOGA implements a different paradigm to infer orthologous loci, improves ortholog detection and annotation of conserved genes compared with state-of-the-art methods, and handles even highly fragmented assemblies. TOGA scales to hundreds of genomes, which we demonstrate by applying it to 488 placental mammal and 501 bird assemblies, creating the largest comparative gene resources so far. Additionally, TOGA detects gene losses, enables selection screens, and automatically provides a superior measure of mammalian genome quality. TOGA is a powerful and scalable method to annotate and compare genes in the genomic era.

Place, publisher, year, edition, pages
American Association for the Advancement of Science (AAAS), 2023. Vol. 380, no 6643, p. 368-+, article id eabn3107
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Bioinformatics and Computational Biology Genetics and Genomics
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URN: urn:nbn:se:uu:diva-505289DOI: 10.1126/science.abn3107ISI: 000989260500004PubMedID: 37104600OAI: oai:DiVA.org:uu-505289DiVA, id: diva2:1777485
Available from: 2023-06-29 Created: 2023-06-29 Last updated: 2025-02-05Bibliographically approved

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Lindblad-Toh, Kerstin

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