A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats

. 2024 Apr 10 ; 4 (4) : 100527. [epub] 20240326

Jazyk angličtina Země Spojené státy americké Médium print-electronic

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/pmid38537634

Grantová podpora
R01 GM140287 NIGMS NIH HHS - United States
P01 HL149620 NHLBI NIH HHS - United States
U01 DA043098 NIDA NIH HHS - United States
R01 HL064541 NHLBI NIH HHS - United States
R24 AA013162 NIAAA NIH HHS - United States
U24 HG010859 NHGRI NIH HHS - United States
R01 HG011252 NHGRI NIH HHS - United States
P30 DA044223 NIDA NIH HHS - United States
R24 OD024617 NIH HHS - United States
R01 GM134366 NIGMS NIH HHS - United States
P50 DA037844 NIDA NIH HHS - United States
Wellcome Trust - United Kingdom
U01 DA051972 NIDA NIH HHS - United States
U01 DA050239 NIDA NIH HHS - United States
R01 DA048017 NIDA NIH HHS - United States
U01 DA047638 NIDA NIH HHS - United States
U01 DA051234 NIDA NIH HHS - United States

Odkazy

PubMed 38537634
PubMed Central PMC11019364
DOI 10.1016/j.xgen.2024.100527
PII: S2666-979X(24)00069-7
Knihovny.cz E-zdroje

The seventh iteration of the reference genome assembly for Rattus norvegicus-mRatBN7.2-corrects numerous misplaced segments and reduces base-level errors by approximately 9-fold and increases contiguity by 290-fold compared with its predecessor. Gene annotations are now more complete, improving the mapping precision of genomic, transcriptomic, and proteomics datasets. We jointly analyzed 163 short-read whole-genome sequencing datasets representing 120 laboratory rat strains and substrains using mRatBN7.2. We defined ∼20.0 million sequence variations, of which 18,700 are predicted to potentially impact the function of 6,677 genes. We also generated a new rat genetic map from 1,893 heterogeneous stock rats and annotated transcription start sites and alternative polyadenylation sites. The mRatBN7.2 assembly, along with the extensive analysis of genomic variations among rat strains, enhances our understanding of the rat genome, providing researchers with an expanded resource for studies involving rats.

Center for Immunity and Immunotherapies Seattle Children's Research Institute Seattle WA USA; Department of Pediatrics University of Washington School of Medicine Seattle WA USA

Department of Anatomy Physiology and Genetics The American Genome Center Uniformed Services University of the Health Sciences Bethesda MD USA

Department of Animal Sciences Washington State University Pullman WA USA

Department of Genetics Genomics and Informatics University of Tennessee Health Science Center Memphis TN USA

Department of Genetics Genomics and Informatics University of Tennessee Health Science Center Memphis TN USA; Center for Proteomics and Metabolomics St Jude Children's Research Hospital Memphis TN USA

Department of Human Genetics University of Michigan Ann Arbor MI USA

Department of Internal Medicine Section on Molecular Medicine Wake Forest University School of Medicine Winston Salem NC USA

Department of Medicine University of California San Diego San Diego CA USA

Department of Pharmaceutical Sciences Skaggs School of Pharmacy and Pharmaceutical Sciences University of Colorado Anschutz Medical Campus Aurora CO USA

Department of Pharmacology Addiction Science and Toxicology University of Tennessee Health Science Center Memphis TN USA

Department of Physiology Medical College of Wisconsin Milwaukee WI USA

Department of Physiology Medical College of Wisconsin Milwaukee WI USA; Rat Genome Database Medical College of Wisconsin Milwaukee WI USA

Department of Psychiatry University of California San Diego San Diego CA USA

Department of Psychiatry University of California San Diego San Diego CA USA; Department of Integrative Structural and Computational Biology Scripps Research San Diego CA USA

Department of Psychiatry University of California San Diego San Diego CA USA; Institute for Genomic Medicine University of California San Diego La Jolla CA USA

European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus in Hinxton Cambridgeshire UK

Genome Structure and Ageing University of Groningen UMC Groningen the Netherlands

Gluck Equine Research Center Department of Veterinary Science University of Kentucky Louisville KY USA

Institute of Biotechnology University of Helsinki Helsinki Finland

Institute of Genetics and Biophysics National Research Council Naples Italy; Department of Genetics Genomics and Informatics University of Tennessee Health Science Center Memphis TN USA

Institute of Physiology Czech Academy of Sciences Prague Czechia

Michigan Neuroscience Institute University of Michigan Ann Arbor MI USA

National Center for Biotechnology Information National Library of Medicine National Institutes of Health Bethesda MD USA

The Brown Foundation Institute of Molecular Medicine Center for Human Genetics University of Texas Health Science Center Houston TX USA

Tree of Life Wellcome Sanger Institute Cambridge UK

Před aktualizací

PubMed

Zobrazit více v PubMed

Parker C.C., Chen H., Flagel S.B., Geurts A.M., Richards J.B., Robinson T.E., Solberg Woods L.C., Palmer A.A. Rats are the smart choice: Rationale for a renewed focus on rats in behavioral genetics. Neuropharmacology. 2014;76:250–258. PubMed PMC

Richter C.P. The effects of domestication and selection on the behavior of the Norway rat. J. Natl. Cancer Inst. 1954;15:727–738. PubMed

Hulme-Beaman A., Orton D., Cucchi T. The origins of the domesticate brown rat (Rattus norvegicus) and its pathways to domestication. Anim. Front. 2021;11:78–86. PubMed PMC

Modlinska K., Pisula W. The Norway rat, from an obnoxious pest to a laboratory pet. Elife. 2020;9 doi: 10.7554/eLife.50651. PubMed DOI PMC

Smith J.R., Hayman G.T., Wang S.-J., Laulederkind S.J.F., Hoffman M.J., Kaldunski M.L., Tutaj M., Thota J., Nalabolu H.S., Ellanki S.L.R., et al. The Year of the Rat: The Rat Genome Database at 20: a multi-species knowledgebase and analysis platform. Nucleic Acids Res. 2020;48:D731–D742. PubMed PMC

RRRC . 2021. Rat Resource & Research Center - Rat Models.https://www.rrrc.us/

Pravenec M., Klír P., Kren V., Zicha J., Kunes J. An analysis of spontaneous hypertension in spontaneously hypertensive rats by means of new recombinant inbred strains. J. Hypertens. 1989;7:217–221. PubMed

Voigt B., Kuramoto T., Mashimo T., Tsurumi T., Sasaki Y., Hokao R., Serikawa T. Evaluation of LEXF/FXLE rat recombinant inbred strains for genetic dissection of complex traits. Physiol. Genomics. 2008;32:335–342. PubMed

Tabakoff B., Smith H., Vanderlinden L.A., Hoffman P.L., Saba L.M. In: Rat Genomics. Hayman G., Smith J., Dwinell M., Shimoyama M., editors. Humana; 2019. Networking in Biology: The Hybrid Rat Diversity Panel; pp. 213–231. PubMed

Hansen C., Spuhler K. Development of the National Institutes of Health genetically heterogeneous rat stock. Alcohol Clin. Exp. Res. 1984;8:477–479. PubMed

Rat Genome Sequencing and Mapping Consortium Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nat. Genet. 2013;45:767–775. PubMed PMC

Woods L.C.S., Mott R. In: Systems Genetics. Schughart K., Williams R., editors. Humana Press; 2017. Heterogeneous Stock Populations for Analysis of Complex Traits; pp. 31–44. PubMed PMC

Solberg Woods L.C., Palmer A.A. In: Rat Genomics. Hayman G., Smith J., Dwinell M., Shimoyama M., editors. Humana; 2019. Using Heterogeneous Stocks for Fine-Mapping Genetically Complex Traits; pp. 233–247. PubMed PMC

Chitre A.S., Polesskaya O., Holl K., Gao J., Cheng R., Bimschleger H., Garcia Martinez A., George T., Gileta A.F., Han W., et al. Genome-Wide Association Study in 3,173 Outbred Rats Identifies Multiple Loci for Body Weight, Adiposity, and Fasting Glucose. Obesity. 2020;28:1964–1973. PubMed PMC

Gunturkun M.H., Wang T., Chitre A.S., Garcia Martinez A., Holl K., St Pierre C., Bimschleger H., Gao J., Cheng R., Polesskaya O., et al. Genome-Wide Association Study on Three Behaviors Tested in an Open Field in Heterogeneous Stock Rats Identifies Multiple Loci Implicated in Psychiatric Disorders. Front. Psychiatry. 2022;13 PubMed PMC

Kaldunski M.L., Smith J.R., Hayman G.T., Brodie K., De Pons J.L., Demos W.M., Gibson A.C., Hill M.L., Hoffman M.J., Lamers L., et al. The Rat Genome Database (RGD) facilitates genomic and phenotypic data integration across multiple species for biomedical research. Mamm. Genome. 2022;33:66–80. PubMed PMC

Gibbs R.A., Weinstock G.M., Metzker M.L., Muzny D.M., Sodergren E.J., Scherer S., Scott G., Steffen D., Worley K.C., Burch P.E., et al. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 2004;428:493–521. PubMed

Worley K.C., Weinstock G.M., Gibbs R.A. Rats in the genomic era. Physiol. Genomics. 2008;32:273–282. PubMed

Twigger S.N., Pruitt K.D., Fernández-Suárez X.M., Karolchik D., Worley K.C., Maglott D.R., Brown G., Weinstock G., Gibbs R.A., Kent J., et al. What everybody should know about the rat genome and its online resources. Nat. Genet. 2008;40:523–527. PubMed PMC

van Heesch S., Kloosterman W.P., Lansu N., Ruzius F.-P., Levandowsky E., Lee C.C., Zhou S., Goldstein S., Schwartz D.C., Harkins T.T., et al. Improving mammalian genome scaffolding using large insert mate-pair next-generation sequencing. BMC Genom. 2013;14:257. PubMed PMC

Tutaj M., Smith J.R., Bolton E.R. In: Rat Genomics. Hayman G., Smith J., Dwinell M., Shimoyama M., editors. Humana; 2019. Rat Genome Assemblies, Annotation, and Variant Repository; pp. 43–70. PubMed

Ramdas S., Ozel A.B., Treutelaar M.K., Holl K., Mandel M., Woods L.C.S., Li J.Z. Extended regions of suspected mis-assembly in the rat reference genome. Sci. Data. 2019;6:39. PubMed PMC

Howe K., Dwinell M., Shimoyama M., Corton C., Betteridge E., Dove A., Quail M.A., Smith M., Saba L., Williams R.W., et al. The genome sequence of the Norway rat, Rattus norvegicus Berkenhout 1769. Wellcome Open Res. 2021;6:118. PubMed PMC

Howe K., Chow W., Collins J., Pelan S., Pointon D.-L., Sims Y., Torrance J., Tracey A., Wood J. Significantly improving the quality of genome assemblies through curation. GigaScience. 2021;10 doi: 10.1093/gigascience/giaa153. PubMed DOI PMC

Mikheenko A., Prjibelski A., Saveliev V., Antipov D., Gurevich A. Versatile genome assembly evaluation with QUAST-LG. Bioinformatics. 2018;34:i142–i150. PubMed PMC

Poplin R., Chang P.-C., Alexander D., Schwartz S., Colthurst T., Ku A., Newburger D., Dijamco J., Nguyen N., Afshar P.T., et al. A universal SNP and small-indel variant caller using deep neural networks. Nat. Biotechnol. 2018;36:983–987. doi: 10.1038/nbt.4235. PubMed DOI

Yun T., Li H., Chang P.-C., Lin M.F., Carroll A., McLean C.Y. Accurate, scalable cohort variant calls using DeepVariant and GLnexus. Bioinformatics. 2021;36:5582–5589. doi: 10.1093/bioinformatics/btaa1081. PubMed DOI PMC

Manni M., Berkeley M.R., Seppey M., Simão F.A., Zdobnov E.M. BUSCO Update: Novel and Streamlined Workflows along with Broader and Deeper Phylogenetic Coverage for Scoring of Eukaryotic, Prokaryotic, and Viral Genomes. Mol. Biol. Evol. 2021;38:4647–4654. PubMed PMC

Zhou X., Li R., Michal J.J., Wu X.-L., Liu Z., Zhao H., Xia Y., Du W., Wildung M.R., Pouchnik D.J., et al. Accurate Profiling of Gene Expression and Alternative Polyadenylation with Whole Transcriptome Termini Site Sequencing (WTTS-Seq) Genetics. 2016;203:683–697. PubMed PMC

Munro D., Wang T., Chitre A.S., Polesskaya O., Ehsan N., Gao J., Gusev A., Woods L.C.S., Saba L.M., Chen H., et al. The regulatory landscape of multiple brain regions in outbred heterogeneous stock rats. Nucleic Acids Res. 2022;50:10882–10895. doi: 10.1093/nar/gkac912. PubMed DOI PMC

Martín-Gálvez D., Dunoyer de Segonzac D., Ma M.C.J., Kwitek A.E., Thybert D., Flicek P. Genome variation and conserved regulation identify genomic regions responsible for strain specific phenotypes in rat. BMC Genom. 2017;18:986. PubMed PMC

Ma M.C.J., Atanur S.S., Aitman T.J., Kwitek A.E. Genomic structure of nucleotide diversity among Lyon rat models of metabolic syndrome. BMC Genom. 2014;15:197. PubMed PMC

Buniello A., MacArthur J.A.L., Cerezo M., Harris L.W., Hayhurst J., Malangone C., McMahon A., Morales J., Mountjoy E., Sollis E., et al. The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019. Nucleic Acids Res. 2019;47:D1005–D1012. PubMed PMC

Koren S., Phillippy A.M., Simpson J.T., Loman N.J., Loose M. Reply to “Errors in long-read assemblies can critically affect protein prediction.”. Nat. Biotechnol. 2019;37:127–128. PubMed

Watson M., Warr A. Errors in long-read assemblies can critically affect protein prediction. Nat. Biotechnol. 2019;37:124–126. PubMed

Sacristán-Horcajada E., González-de la Fuente S., Peiró-Pastor R., Carrasco-Ramiro F., Amils R., Requena J.M., Berenguer J., Aguado B. ARAMIS: From systematic errors of NGS long reads to accurate assemblies. Brief. Bioinform. 2021;22 doi: 10.1093/bib/bbab170. PubMed DOI PMC

Rhie A., McCarthy S.A., Fedrigo O., Damas J., Formenti G., Koren S., Uliano-Silva M., Chow W., Fungtammasan A., Kim J., et al. Towards complete and error-free genome assemblies of all vertebrate species. Nature. 2021;592:737–746. PubMed PMC

Chin C.-S., Peluso P., Sedlazeck F.J., Nattestad M., Concepcion G.T., Clum A., Dunn C., O’Malley R., Figueroa-Balderas R., Morales-Cruz A., et al. Phased diploid genome assembly with single-molecule real-time sequencing. Nat. Methods. 2016;13:1050–1054. PubMed PMC

de Jong T.V., Chen H., Brashear W.A., Kochan K.J., Hillhouse A.E., Zhu Y., Dhande I.S., Hudson E.A., Sumlut M.H., Smith M.L., et al. mRatBN7.2: familiar and unfamiliar features of a new rat genome reference assembly. Physiol. Genomics. 2022;54:251–260. PubMed PMC

Nurk S., Koren S., Rhie A., Rautiainen M., Bzikadze A.V., Mikheenko A., Vollger M.R., Altemose N., Uralsky L., Gershman A., et al. The complete sequence of a human genome. Science. 2022;376:44–53. PubMed PMC

Atanur S.S., Diaz A.G., Maratou K., Sarkis A., Rotival M., Game L., Tschannen M.R., Kaisaki P.J., Otto G.W., Ma M.C.J., et al. Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat. Cell. 2013;154:691–703. PubMed PMC

Hermsen R., de Ligt J., Spee W., Blokzijl F., Schäfer S., Adami E., Boymans S., Flink S., van Boxtel R., van der Weide R.H., et al. Genomic landscape of rat strain and substrain variation. BMC Genom. 2015;16:357. PubMed PMC

Supernat A., Vidarsson O.V., Steen V.M., Stokowy T. Comparison of three variant callers for human whole genome sequencing. Sci. Rep. 2018;8 PubMed PMC

Ashbrook D.G., Arends D., Prins P., Mulligan M.K., Roy S., Williams E.G., Lutz C.M., Valenzuela A., Bohl C.J., Ingels J.F., et al. A platform for experimental precision medicine: The extended BXD mouse family. Cell Syst. 2021;12:235–247.e9. PubMed PMC

Ashbrook D.G., Sasani T., Maksimov M., Gunturkun M.H., Ma N., Villani F., Ren Y., Rothschild D., Chen H., Lu L., et al. Private and sub-family specific mutations of founder haplotypes in the BXD family reveal phenotypic consequences relevant to health and disease. bioRxiv. 2022 doi: 10.1101/2022.04.21.489063. Preprint at. DOI

Pattee J., Vanderlinden L.A., Mahaffey S., Hoffman P., Tabakoff B., Saba L.M. Evaluation and characterization of expression quantitative trait analysis methods in the Hybrid Rat Diversity Panel. Front. Genet. 2022;13 PubMed PMC

Senko A.N., Overall R.W., Silhavy J., Mlejnek P., Malínská H., Hüttl M., Marková I., Fabel K.S., Lu L., Stuchlik A., et al. Systems genetics in the rat HXB/BXH family identifies Tti2 as a pleiotropic quantitative trait gene for adult hippocampal neurogenesis and serum glucose. PLoS Genet. 2022;18 PubMed PMC

Bryant C.D., Smith D.J., Kantak K.M., Nowak T.S., Jr., Williams R.W., Damaj M.I., Redei E.E., Chen H., Mulligan M.K. Facilitating Complex Trait Analysis via Reduced Complexity Crosses. Trends Genet. 2020;36:549–562. PubMed PMC

Witte F., Ruiz-Orera J., Mattioli C.C., Blachut S., Adami E., Schulz J.F., Schneider-Lunitz V., Hummel O., Patone G., Mücke M.B., et al. A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion. Genome Biol. 2021;22:191. PubMed PMC

Pravenec M., Kožich V., Krijt J., Sokolová J., Zídek V., Landa V., Mlejnek P., Šilhavý J., Šimáková M., Škop V., et al. Genetic Variation in Renal Expression of Folate Receptor 1 (Folr1) Gene Predisposes Spontaneously Hypertensive Rats to Metabolic Syndrome. Hypertension. 2016;67:335–341. PubMed

Pravenec M., Churchill P.C., Churchill M.C., Viklicky O., Kazdova L., Aitman T.J., Petretto E., Hubner N., Wallace C.A., Zimdahl H., et al. Identification of renal Cd36 as a determinant of blood pressure and risk for hypertension. Nat. Genet. 2008;40:952–954. PubMed

Heinig M., Petretto E., Wallace C., Bottolo L., Rotival M., Lu H., Li Y., Sarwar R., Langley S.R., Bauerfeind A., et al. A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk. Nature. 2010;467:460–464. PubMed PMC

Lu L.M., Shisa H., Tanuma J., Hiai H. Propylnitrosourea-induced T-lymphomas in LEXF RI strains of rats: genetic analysis. Br. J. Cancer. 1999;80:855–861. PubMed PMC

Hubner N., Wallace C.A., Zimdahl H., Petretto E., Schulz H., Maciver F., Mueller M., Hummel O., Monti J., Zidek V., et al. Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease. Nat. Genet. 2005;37:243–253. PubMed

Holl K., He H., Wedemeyer M., Clopton L., Wert S., Meckes J.K., Cheng R., Kastner A., Palmer A.A., Redei E.E., Solberg Woods L.C. Heterogeneous stock rats: a model to study the genetics of despair-like behavior in adolescence. Genes Brain Behav. 2018;17:139–148. PubMed PMC

Keele G.R., Prokop J.W., He H., Holl K., Littrell J., Deal A., Francic S., Cui L., Gatti D.M., Broman K.W., et al. Genetic Fine-Mapping and Identification of Candidate Genes and Variants for Adiposity Traits in Outbred Rats. Obesity. 2018;26:213–222. PubMed PMC

Solberg Woods L.C., Holl K.L., Oreper D., Xie Y., Tsaih S.-W., Valdar W. Fine-mapping diabetes-related traits, including insulin resistance, in heterogeneous stock rats. Physiol. Genomics. 2012;44:1013–1026. PubMed PMC

Lemen P.M., Hatoum A.S., Dickson P.E., Mittleman G., Agrawal A., Reiner B.C., Berrettini W., Ashbrook D., Gunturkun H., Mulligan M.K., et al. Opiate responses are controlled by interactions of Oprm1 and Fgf12 loci in the murine BXD family: Correspondence to human GWAS finding. bioRxiv. 2022 doi: 10.1101/2022.03.11.483993. Preprint at. DOI

Lusis A.J., Seldin M.M., Allayee H., Bennett B.J., Civelek M., Davis R.C., Eskin E., Farber C.R., Hui S., Mehrabian M., et al. The Hybrid Mouse Diversity Panel: a resource for systems genetics analyses of metabolic and cardiovascular traits. J. Lipid Res. 2016;57:925–942. PubMed PMC

Ulusoy S., Ozkan G., Alkanat M., Mungan S., Yuluğ E., Orem A. Perspective on rhabdomyolysis-induced acute kidney injury and new treatment options. Am. J. Nephrol. 2013;38:368–378. PubMed

Kang K., Nan C., Fei D., Meng X., Liu W., Zhang W., Jiang L., Zhao M., Pan S., Zhao M. Heme oxygenase 1 modulates thrombomodulin and endothelial protein C receptor levels to attenuate septic kidney injury. Shock. 2013;40:136–143. PubMed

Yuan G., Deng J., Wang T., Zhao C., Xu X., Wang P., Voltz J.W., Edin M.L., Xiao X., Chao L., et al. Tissue kallikrein reverses insulin resistance and attenuates nephropathy in diabetic rats by activation of phosphatidylinositol 3-kinase/protein kinase B and adenosine 5’-monophosphate-activated protein kinase signaling pathways. Endocrinology. 2007;148:2016–2026. PubMed PMC

Osipova E., Barsacchi R., Brown T., Sadanandan K., Gaede A.H., Monte A., Jarrells J., Moebius C., Pippel M., Altshuler D.L., et al. Loss of a gluconeogenic muscle enzyme contributed to adaptive metabolic traits in hummingbirds. Science. 2023;379:185–190. PubMed

Obeidat M. ’en, Zhou G., Li X., Hansel N.N., Rafaels N., Mathias R., Ruczinski I., Beaty T.H., Barnes K.C., Paré P.D., Sin D.D. The genetics of smoking in individuals with chronic obstructive pulmonary disease. Respir. Res. 2018;19:59. PubMed PMC

Canzian F. Phylogenetics of the laboratory rat Rattus norvegicus. Genome Res. 1997;7:262–267. PubMed

Mashimo T., Voigt B., Tsurumi T., Naoi K., Nakanishi S., Yamasaki K.-I., Kuramoto T., Serikawa T. A set of highly informative rat simple sequence length polymorphism (SSLP) markers and genetically defined rat strains. BMC Genet. 2006;7:19. PubMed PMC

Chen N.-C., Solomon B., Mun T., Iyer S., Langmead B. Reference flow: reducing reference bias using multiple population genomes. Genome Biol. 2021;22:8. PubMed PMC

Munger S.C., Raghupathy N., Choi K., Simons A.K., Gatti D.M., Hinerfeld D.A., Svenson K.L., Keller M.P., Attie A.D., Hibbs M.A., et al. RNA-Seq alignment to individualized genomes improves transcript abundance estimates in multiparent populations. Genetics. 2014;198:59–73. PubMed PMC

Eizenga J.M., Novak A.M., Sibbesen J.A., Heumos S., Ghaffaari A., Hickey G., Chang X., Seaman J.D., Rounthwaite R., Ebler J., et al. Pangenome Graphs. Annu. Rev. Genomics Hum. Genet. 2020;21:139–162. PubMed PMC

Villani F., Guarracino A., Ward R.R., Green T., Emms M., Pravenec M., Prins P., Garrison E., Williams R.W., Chen H., Colonna V. Pangenome reconstruction in rats enhances genotype-phenotype mapping and novel variant discovery. bioRxiv. 2024 doi: 10.1101/2024.01.10.575041. Preprint at. DOI

Kalbfleisch T.S., Hussien AbouEl Ela N.A., Li K., Brashear W.A., Kochan K.J., Hillhouse A.E., Zhu Y., Dhande I.S., Kline E.J., Hudson E.A., et al. The Assembled Genome of the Stroke-Prone Spontaneously Hypertensive Rat. Hypertension. 2023;80:138–146. PubMed PMC

Rastas P. Lep-Anchor: automated construction of linkage map anchored haploid genomes. Bioinformatics. 2020;36:2359–2364. PubMed

Kivikoski M., Rastas P., Löytynoja A., Merilä J. Automated improvement of stickleback reference genome assemblies with Lep-Anchor software. Mol. Ecol. Resour. 2021;21:2166–2176. PubMed

ENCODE Project Consortium An integrated encyclopedia of DNA elements in the human genome. Nature. 2012;489:57–74. PubMed PMC

Duttke S.H., Montilla-Perez P., Chang M.W., Li H., Chen H., Carrette L.L.G., de Guglielmo G., George O., Palmer A.A., Benner C., Telese F. Glucocorticoid Receptor-Regulated Enhancers Play a Central Role in the Gene Regulatory Networks Underlying Drug Addiction. Front. Neurosci. 2022;16 PubMed PMC

O’Leary N.A., Wright M.W., Brister J.R., Ciufo S., Haddad D., McVeigh R., Rajput B., Robbertse B., Smith-White B., Ako-Adjei D., et al. Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation. Nucleic Acids Res. 2016;44:D733–D745. PubMed PMC

Kalikar S., Jain C., Vasimuddin M., Misra S. Accelerating minimap2 for long-read sequencing applications on modern CPUs. Nat. Comput. Sci. 2022;2:78–83. PubMed

Li H., Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010;26:589–595. PubMed PMC

Poplin R., Ruano-Rubio V., DePristo M.A., Fennell T.J., Carneiro M.O., Van der Auwera G.A., Kling D.E., Gauthier L.D., Levy-Moonshine A., Roazen D., et al. Scaling accurate genetic variant discovery to tens of thousands of samples. bioRxiv. 2018 doi: 10.1101/201178. Preprint at. DOI

Li H. Minimap2: pairwise alignment for nucleotide sequences. Bioinformatics. 2018;34:3094–3100. PubMed PMC

Jeffares D.C., Jolly C., Hoti M., Speed D., Shaw L., Rallis C., Balloux F., Dessimoz C., Bähler J., Sedlazeck F.J. Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast. Nat. Commun. 2017;8 PubMed PMC

Cingolani P., Platts A., Wang L.L., Coon M., Nguyen T., Wang L., Land S.J., Lu X., Ruden D.M. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly. 2012;6:80–92. PubMed PMC

Tarailo-Graovac M., Chen N. Using RepeatMasker to identify repetitive elements in genomic sequences. Curr. Protoc. Bioinformatics. 2009;25:4.10.1–4.10.14. PubMed

Gunturkun M.H., Flashner E., Wang T., Mulligan M.K., Williams R.W., Prins P., Chen H. GeneCup: mining PubMed and GWAS catalog for gene–keyword relationships. G3 (Bethesda). 2022;12:jkac059. PubMed PMC

Hinrichs A.S., Karolchik D., Baertsch R., Barber G.P., Bejerano G., Clawson H., Diekhans M., Furey T.S., Harte R.A., Hsu F., et al. The UCSC Genome Browser Database: update 2006. Nucleic Acids Res. 2006;34:D590–D598. PubMed PMC

Purcell S., Neale B., Todd-Brown K., Thomas L., Ferreira M.A.R., Bender D., Maller J., Sklar P., de Bakker P.I.W., Daly M.J., Sham P.C. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 2007;81:559–575. PubMed PMC

Rastas P. Lep-MAP3: robust linkage mapping even for low-coverage whole genome sequencing data. Bioinformatics. 2017;33:3726–3732. PubMed

Danecek P., Bonfield J.K., Liddle J., Marshall J., Ohan V., Pollard M.O., Whitwham A., Keane T., McCarthy S.A., Davies R.M., et al. Twelve years of SAMtools and BCFtools. GigaScience. 2021;10 doi: 10.1093/gigascience/giab008. PubMed DOI PMC

Tamura K., Stecher G., Kumar S. MEGA11: Molecular Evolutionary Genetics Analysis Version 11. Mol. Biol. Evol. 2021;38:3022–3027. PubMed PMC

Yu G., Smith D.K., Zhu H., Guan Y., Lam T.T.-Y. Ggtree : An r package for visualization and annotation of phylogenetic trees with their covariates and other associated data. Methods Ecol. Evol. 2017;8:28–36.

Dobin A., Davis C.A., Schlesinger F., Drenkow J., Zaleski C., Jha S., Batut P., Chaisson M., Gingeras T.R. STAR: ultrafast universal RNA-seq aligner. Bioinformatics. 2013;29:15–21. PubMed PMC

Duttke S.H., Chang M.W., Heinz S., Benner C. Identification and dynamic quantification of regulatory elements using total RNA. Genome Res. 2019;29:1836–1846. PubMed PMC

Delaneau O., Ongen H., Brown A.A., Fort A., Panousis N.I., Dermitzakis E.T. A complete tool set for molecular QTL discovery and analysis. Nat. Commun. 2017;8 PubMed PMC

UniProt Consortium UniProt: a worldwide hub of protein knowledge. Nucleic Acids Res. 2019;47:D506–D515. PubMed PMC

Gileta A.F., Gao J., Chitre A.S., Bimschleger H.V., St Pierre C.L., Gopalakrishnan S., Palmer A.A. Adapting Genotyping-by-Sequencing and Variant Calling for Heterogeneous Stock Rats. G3 (Bethesda) 2020;10:2195–2205. PubMed PMC

Zhou J.L., de Guglielmo G., Ho A.J., Kallupi M., Li H.-R., Chitre A.S., Carrette L.L.G., George O., Palmer A.A., McVicker G., Telese F. Cocaine addiction-like behaviors are associated with long-term changes in gene regulation, energy metabolism, and GABAergic inhibition within the amygdala. bioRxiv. 2022 doi: 10.1101/2022.09.08.506493. Preprint at. DOI

Jeffs B., Negrin C.D., Graham D., Clark J.S., Anderson N.H., Gauguier D., Dominiczak A.F. Applicability of a “speed” congenic strategy to dissect blood pressure quantitative trait loci on rat chromosome 2. Hypertension. 2000;35:179–187. PubMed

Aken B.L., Ayling S., Barrell D., Clarke L., Curwen V., Fairley S., Fernandez Banet J., Billis K., García Girón C., Hourlier T., et al. The Ensembl Gene Annotation System. Database. 2016;2016 doi: 10.1093/database/baw093. PubMed DOI PMC

Altschul S.F., Gish W., Miller W., Myers E.W., Lipman D.J. Basic local alignment search tool. J. Mol. Biol. 1990;215:403–410. PubMed

Kozomara A., Birgaoanu M., Griffiths-Jones S. miRBase: from microRNA sequences to function. Nucleic Acids Res. 2019;47:D155–D162. PubMed PMC

Gruber A.R., Lorenz R., Bernhart S.H., Neuböck R., Hofacker I.L. The Vienna RNA Websuite. Nucleic Acids Res. 2008;36:W70–W74. PubMed PMC

Kalvari I., Argasinska J., Quinones-Olvera N., Nawrocki E.P., Rivas E., Eddy S.R., Bateman A., Finn R.D., Petrov A.I. Rfam 13.0: shifting to a genome-centric resource for non-coding RNA families. Nucleic Acids Res. 2018;46:D335–D342. PubMed PMC

Nawrocki E.P., Eddy S.R. Infernal 1.1: 100-fold faster RNA homology searches. Bioinformatics. 2013;29:2933–2935. PubMed PMC

McGarvey K.M., Goldfarb T., Cox E., Farrell C.M., Gupta T., Joardar V.S., Kodali V.K., Murphy M.R., O’Leary N.A., Pujar S., et al. Mouse genome annotation by the RefSeq project. Mamm. Genome. 2015;26:379–390. PubMed PMC

Najít záznam

Citační ukazatele

Nahrávání dat ...

Možnosti archivace

Nahrávání dat ...