Genome annotation

基因组注释
  • 文章类型: Journal Article
    葡萄具有很高的经济价值。炭疽病,一种导致葡萄成熟腐烂和叶斑病的病原体,威胁到葡萄的产量和质量。
    本研究通过细胞学研究和转录组测序调查了葡萄树之间的相互作用。
    不同的葡萄种质,五、viniferacv。汤普森无核(TS),V.labrusca登录名Beaumont(B)和V.piasezkiiLiuba-8(LB-8)被归类为高度敏感,中等抗性和抗念珠菌,分别。细胞学研究分析揭示了接种后易感和抗性葡萄之间的明显差异,包括更快的病原体发展,更长的发芽管,念珠菌的正常压疮和易感寄主葡萄中没有白色分泌物。为了解鹿茸的致病机制,对易感葡萄树“TS”进行转录组测序,鉴定了236个差异表达的葡萄念珠菌基因。其中包括56个效应器,36个碳水化合物基因,5个P450基因,和10个参与次生代谢的基因。真菌效应子被认为是调节植物免疫和影响疾病发展的关键致病因子。农杆菌介导的烟草中的瞬时转化筛选了10种效应子(CvA13877,CvA01508,CvA05621,CvA00229,CvA07043,CvA05569,CvA12648,CvA02698,CvA14071和CvA10999),它们抑制了INF1(Cvestelans诱导的细胞死亡。此外,对念珠菌响应的“TS”的转录组分析鉴定出与植物激素信号相关的差异表达的葡萄基因(TGA,PR1,ETR,和ERF1/2),白藜芦醇生物合成基因(STS),苯丙素生物合成基因(PAL和COMT),光合天线蛋白(Lhca和Lhcb),转录因子(WRKY,NAC,MYB,ERF,GATA,bHLH和SBP),ROS(活性氧)清除基因(CAT,GSH,POD和SOD),和疾病相关基因(LRR,RPS2和GST)。
    这项研究强调了葡萄树的潜在功能多样性。本研究结果为进一步研究炭疽菌的侵染机制和鉴定葡萄的疾病反应靶点奠定了基础。
    UNASSIGNED: Grape is of high economic value. Colletotrichum viniferum, a pathogen causing grape ripe rot and leaf spot, threatens grape production and quality.
    UNASSIGNED: This study investigates the interplay between C. viniferum by Cytological study and transcriptome sequencing.
    UNASSIGNED: Different grapevine germplasms, V. vinifera cv. Thompson Seedless (TS), V. labrusca accession Beaumont (B) and V. piasezkii Liuba-8 (LB-8) were classified as highly sensitive, moderate resistant and resistant to C. viniferum, respectively. Cytological study analysis reveals distinct differences between susceptible and resistant grapes post-inoculation, including faster pathogen development, longer germination tubes, normal appressoria of C. viniferum and absence of white secretions in the susceptible host grapevine. To understand the pathogenic mechanisms of C. viniferum, transcriptome sequencing was performed on the susceptible grapevine \"TS\" identifying 236 differentially expressed C. viniferum genes. These included 56 effectors, 36 carbohydrate genes, 5 P450 genes, and 10 genes involved in secondary metabolism. Fungal effectors are known as pivotal pathogenic factors that modulate plant immunity and affect disease development. Agrobacterium-mediated transient transformation in Nicotiana benthamiana screened 10 effectors (CvA13877, CvA01508, CvA05621, CvA00229, CvA07043, CvA05569, CvA12648, CvA02698, CvA14071 and CvA10999) that inhibited INF1 (infestans 1, P. infestans PAMP elicitor) induced cell death and 2 effectors (CvA02641 and CvA11478) that induced cell death. Additionally, transcriptome analysis of \"TS\" in response to C. viniferum identified differentially expressed grape genes related to plant hormone signaling (TGA, PR1, ETR, and ERF1/2), resveratrol biosynthesis genes (STS), phenylpropanoid biosynthesis genes (PAL and COMT), photosynthetic antenna proteins (Lhca and Lhcb), transcription factors (WRKY, NAC, MYB, ERF, GATA, bHLH and SBP), ROS (reactive oxygen species) clearance genes (CAT, GSH, POD and SOD), and disease-related genes (LRR, RPS2 and GST).
    UNASSIGNED: This study highlights the potential functional diversity of C. viniferum effectors. Our findings lay a foundation for further research of infection mechanisms in Colletotrichum and identification of disease response targets in grape.
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  • 文章类型: Journal Article
    同源蛋白质组的计算模型在序列生物信息学中是必不可少的。由于病毒的多样性和快速进化,来自病毒基因组的蛋白质序列的分组尤其具有挑战性。病毒中同源基因的低序列相似性需要基于序列和结构的聚类的特定方法。此外,公共数据库中病毒基因组的注释不像许多细胞基因组那样一致和最新。为了解决这些问题,我们开发了VOGDB,这是一个病毒直系同源组的数据库。VOGDB是一个多层数据库,可将病毒基因逐步分组为通过越来越远的相似性连接的组。第一层基于成对序列相似性,第二层基于序列谱比对,第三层使用预测的蛋白质结构来找到最遥远的相似性。VOGDB组允许对新基因进行更敏感的同源性搜索,并增加预测注释或推断系统发育的机会。VOGDB使用来自RefSeq的所有病毒基因组并部分重新注释它们。VOGDB随每个RefSeq版本更新。VOGDB的独特之处在于在同一聚类过程中包含原核和真核病毒,这使得探索这两个群体的旧进化关系成为可能。根据CCBY4.0许可证,VOGDB可在vogdb.org免费获得。
    Computational models of homologous protein groups are essential in sequence bioinformatics. Due to the diversity and rapid evolution of viruses, the grouping of protein sequences from virus genomes is particularly challenging. The low sequence similarities of homologous genes in viruses require specific approaches for sequence- and structure-based clustering. Furthermore, the annotation of virus genomes in public databases is not as consistent and up to date as for many cellular genomes. To tackle these problems, we have developed VOGDB, which is a database of virus orthologous groups. VOGDB is a multi-layer database that progressively groups viral genes into groups connected by increasingly remote similarity. The first layer is based on pair-wise sequence similarities, the second layer is based on the sequence profile alignments, and the third layer uses predicted protein structures to find the most remote similarity. VOGDB groups allow for more sensitive homology searches of novel genes and increase the chance of predicting annotations or inferring phylogeny. VOGD B uses all virus genomes from RefSeq and partially reannotates them. VOGDB is updated with every RefSeq release. The unique feature of VOGDB is the inclusion of both prokaryotic and eukaryotic viruses in the same clustering process, which makes it possible to explore old evolutionary relationships of the two groups. VOGDB is freely available at vogdb.org under the CC BY 4.0 license.
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  • 文章类型: Journal Article
    小麦是一种重要的作物,其参考基因组(国际小麦基因组测序联盟(IWGSC)RefSeqv2.1)为了解小麦遗传结构提供了宝贵的资源,改善农艺性状,开发新品种。基因模型注释的一个关键方面是从蛋白质组学研究获得的基因表达的蛋白质水平证据,随后进行蛋白质基因组学,以将蛋白质物理映射到基因组。在这项研究中,我们检索了最近公开的最大的小麦蛋白质组学数据集,并应用基本局部比对搜索工具(tBLASTn)算法针对IWGSCRefSeqv2.1映射861,759个鉴定的独特肽。在92,719次点击中,83,015个独特的肽沿33,612个高置信度(HC)基因对齐,从而验证了所有小麦HC基因模型的31.4%。此外,6685个独特的肽被映射到3702个低置信度(LC)基因模型,我们认为这些基因模型应该考虑HC状态。剩余的2934个孤儿肽可用于新基因发现,如这里在染色体4D上举例说明的。我们证明了tBLASTn不能定位表现出中间序列移码的肽。我们提供所有的蛋白质基因组学结果,Galaxy工作流程和Python代码,以及浏览器可扩展数据(BED)文件作为通过ApolloJbrowse的小麦社区的资源,和GitHub存储库。我们的工作流程可以应用于其他蛋白质组学数据集,以使用来自生物和异常应激样品的蛋白质和肽来扩展该资源。这将有助于梳理小麦基因在各种环境条件下的表达,在空间和时间上。
    Triticum aestivum is an important crop whose reference genome (International Wheat Genome Sequencing Consortium (IWGSC) RefSeq v2.1) offers a valuable resource for understanding wheat genetic structure, improving agronomic traits, and developing new cultivars. A key aspect of gene model annotation is protein-level evidence of gene expression obtained from proteomics studies, followed up by proteogenomics to physically map proteins to the genome. In this research, we have retrieved the largest recent wheat proteomics datasets publicly available and applied the Basic Local Alignment Search Tool (tBLASTn) algorithm to map the 861,759 identified unique peptides against IWGSC RefSeq v2.1. Of the 92,719 hits, 83,015 unique peptides aligned along 33,612 High Confidence (HC) genes, thus validating 31.4% of all wheat HC gene models. Furthermore, 6685 unique peptides were mapped against 3702 Low Confidence (LC) gene models, and we argue that these gene models should be considered for HC status. The remaining 2934 orphan peptides can be used for novel gene discovery, as exemplified here on chromosome 4D. We demonstrated that tBLASTn could not map peptides exhibiting mid-sequence frame shift. We supply all our proteogenomics results, Galaxy workflow and Python code, as well as Browser Extensible Data (BED) files as a resource for the wheat community via the Apollo Jbrowse, and GitHub repositories. Our workflow could be applied to other proteomics datasets to expand this resource with proteins and peptides from biotically and abiotically stressed samples. This would help tease out wheat gene expression under various environmental conditions, both spatially and temporally.
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  • 文章类型: Journal Article
    目的:Roscoea是泛热带姜科的一个喜马拉雅高山属。作为传统的藏药用植物,该属的许多物种受到挖掘的威胁,测井,土地清理,放牧和气候变化。Roscoeadebilis是横断山区的特有物种,分布范围狭窄。在这项研究中,为了为比较和功能基因组研究提供重要资源,提出了Roscoea的组装和注释基因组。Roscoea的第一个完整参考基因组有望为保护和进化生物学的研究提供启示。
    方法:通过结合Illumina短读段(107.28Gb)和PacBioHi-Fi读段(64.08Gb),获得了戴比利斯的染色体水平基因组1601.04Mb,实现大约67×和40×的高质量测序覆盖率。装配另外得到271.65GbHi-C数据(169×)的辅助,这导致了136.17Mb的重叠群N50和90.48Mb的支架N50。基准通用单拷贝直系同源物(BUSCO)评估结果显示,BUSCO数据集(胚体_odb10)中的大多数核心胚体基因(98.7%)已成功鉴定。此外,96.44%的基因组序列被准确映射到十二个假染色体上。
    OBJECTIVE: Roscoea is a Sino-Himalayan alpine genus in pantropical family Zingiberaeae. As traditional Tibetan medicinal plants, many species of this genus are threatened by digging, logging, land clearance, grazing and climate change. Roscoea debilis is an endemic species in the Hengduan Mountains with a narrow distribution range. In this study, the assembled and annotated genome of Roscoea was presented in order to furnish significant resources for comparative and functional genomic investigations. The first complete reference genome of Roscoea is expected to shed light on research on conservation and evolutionary biology.
    METHODS: A chromosome-level genome of 1601.04 Mb was obtained for R. debilis by combining Illumina short reads (107.28 Gb) and PacBio Hi-Fi reads (64.08 Gb), achieving high-quality sequencing coverage of roughly 67 × and 40 ×. The assembly was additionally assisted by 271.65 Gb Hi-C data (169 ×), which resulted in a contig N50 of 136.17 Mb and a scaffold N50 of 90.48 Mb. Benchmarking Universal Single-Copy Orthologs (BUSCO) assessment results revealed that most of the core embryophyta genes (98.7%) in the BUSCO dataset (embryophyta_odb10) were successfully identified. Additionally, 96.44% of the genomic sequences were accurately mapped onto twelve pseudochromosomes.
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  • 文章类型: Journal Article
    基因组构建的生命周期跨越了组装的互锁支柱,注释,和比较基因组学来驱动生物学洞察力。虽然存在单独解决每个支柱的工具,越来越需要工具来从整体上整合基因组计划的不同支柱。例如,比较方法可以提供装配或注释的质量控制;基因组装配,反过来,可以帮助识别可能使基因组比较解释复杂化的工件。JCVI库是一个多功能的基于Python的库,它提供了一套在这些支柱上脱颖而出的工具。采用模块化设计,JCVI库为格式解析等任务提供高级实用程序,图形生成,以及基因组组装和注释的操作。支持基因组学算法,如MCscan和ALLMAPS被广泛用于构建基因组释放,制作可用于质量评估和进化推断的出版物数据。合作开发和维护,JCVI库强调质量和可重用性。
    The life cycle of genome builds spans interlocking pillars of assembly, annotation, and comparative genomics to drive biological insights. While tools exist to address each pillar separately, there is a growing need for tools to integrate different pillars of a genome project holistically. For example, comparative approaches can provide quality control of assembly or annotation; genome assembly, in turn, can help to identify artifacts that may complicate the interpretation of genome comparisons. The JCVI library is a versatile Python-based library that offers a suite of tools that excel across these pillars. Featuring a modular design, the JCVI library provides high-level utilities for tasks such as format parsing, graphics generation, and manipulation of genome assemblies and annotations. Supporting genomics algorithms like MCscan and ALLMAPS are widely employed in building genome releases, producing publication-ready figures for quality assessment and evolutionary inference. Developed and maintained collaboratively, the JCVI library emphasizes quality and reusability.
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  • 文章类型: Journal Article
    该菌株是从传统(自制)发酵的立陶宛樱桃番茄中分离出来的。基因组由55个重叠群组成,总大小为3,326,119bp,N50为170738,GC%为44.3%。根据COG注释,这些蛋白质中的大多数分为与转录相关的三类(K类:307),氨基酸运输和代谢(E类:222),和碳水化合物运输和代谢(G类:268)。没有发现与抗微生物药物耐药性或毒力因子相关的基因。此处提供的数据可用于比较基因组学,以鉴定可能存在于相关乳杆菌物种中的抗微生物抗性基因和毒力因子。PlasmidFinder服务器显示基因组中存在具有林可霉素抗性的质粒pR18(评估号JN601038),可以从一种细菌转移到另一种细菌,是芽孢杆菌属和乳酸菌属中最常见的质粒之一。基因组序列数据草案已在Bioproject下由NCBI保藏,登录号PRJNA947394。
    This strain was isolated from traditionally (homemade) fermented Lithuanian cherry tomatoes. The genome consists of 55 contigs with a total size of 3,326,119 bp, an N50 of 170738, and a GC% of 44.3 %. According to the COG annotation, most of these proteins were divided into three categories related to transcription (K category: 307), amino acid transport and metabolism (E category: 222), and carbohydrate transport and metabolism (G category: 268). No genes associated with antimicrobial resistance or virulence factors were identified. The data presented here can be used in comparative genomics to identify antimicrobial resistance genes and virulence factors that may be present in relevant Lactobacillus species. PlasmidFinder server revealed the presence of plasmid pR18 (assessment number JN601038) in the genome that has lincomycin resistance, can be transferred from one bacterium to another, and is one of the most common plasmids in the genera Bacillus and Lactobacillus. The draft genome sequence data have been deposited with NCBI under Bioproject under accession number PRJNA947394.
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  • 文章类型: Journal Article
    尼古丁降解是阻断尼古丁诱导病理的新策略。尚未探索人类微生物群降解尼古丁的潜力。
    这项研究旨在揭示人类微生物群降解尼古丁的基因组潜力。
    要解决此问题,我们对人类微生物群的基因组和宏基因组中的尼古丁降解酶(NDE)进行了系统注释。从公共数据库中下载了26,295个人类微生物群的基因组和1,596个宏基因组,并使用自定义管道对五种类型的NDE进行了注释。我们找到959NdhB,785NdhL,987NicX,三个NicA1和三个NicA2同源物。
    基因组分类显示,六个门级分类单元,包括变形杆菌,Firmicutes,Firmicutes_A,拟杆菌,放线菌,和氯氟科,可以产生NDE,用编码所有五种类型NDE的变形菌进行研究。对NicX患病率的分析揭示了身体部位之间的差异。在肠道和口腔样本中发现了NicX同源物,患病率很高,但在肺样本中未发现。在吸烟者和非吸烟者的样本中都发现了NicX,尽管患病率可能有所不同。
    这项研究代表了对来自人类微生物群的NDE的首次系统研究,为人类微生物群的生理和生态功能提供了新的见解,并为开发用于治疗吸烟相关疾病的尼古丁降解益生菌提供了新的思路。
    UNASSIGNED: Nicotine degradation is a new strategy to block nicotine-induced pathology. The potential of human microbiota to degrade nicotine has not been explored.
    UNASSIGNED: This study aimed to uncover the genomic potentials of human microbiota to degrade nicotine.
    UNASSIGNED: To address this issue, we performed a systematic annotation of Nicotine-Degrading Enzymes (NDEs) from genomes and metagenomes of human microbiota. A total of 26,295 genomes and 1,596 metagenomes for human microbiota were downloaded from public databases and five types of NDEs were annotated with a custom pipeline. We found 959 NdhB, 785 NdhL, 987 NicX, three NicA1, and three NicA2 homologs.
    UNASSIGNED: Genomic classification revealed that six phylum-level taxa, including Proteobacteria, Firmicutes, Firmicutes_A, Bacteroidota, Actinobacteriota, and Chloroflexota, can produce NDEs, with Proteobacteria encoding all five types of NDEs studied. Analysis of NicX prevalence revealed differences among body sites. NicX homologs were found in gut and oral samples with a high prevalence but not found in lung samples. NicX was found in samples from both smokers and non-smokers, though the prevalence might be different.
    UNASSIGNED: This study represents the first systematic investigation of NDEs from the human microbiota, providing new insights into the physiology and ecological functions of human microbiota and shedding new light on the development of nicotine-degrading probiotics for the treatment of smoking-related diseases.
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  • 文章类型: Journal Article
    在这项研究中,对AkkermansiamuciniphilaONE(称为AKKONE)的基因组进行了测序,组装,并分析。此外,毒理学研究进一步评估了该菌株的安全性.结果表明,AKKONE基因组包含在一条染色体上,总长度为2,817,524bp,平均GC含量为55.48%。总的来说,2411、1131、1168、1745和1402基因被注释为NR,GO,KEGG,COG,和SwissProt数据库,分别。潜在的抗性基因,adeF,tetW,ANT(3″)-IIa,并检测到aadA1。AKKONE对氨苄青霉素敏感,头孢曲松,头孢噻肟,美罗培南,四环素,和氯霉素和莫西沙星耐药。未检测到潜在的毒力相关基因。PathogenFinder数据库分析表明,AKKONE是一种非潜在的人类病原体。该菌株具有良好的胃肠液耐受性和弱的定殖能力。在急性和亚慢性毒性试验中未观察到与试验项目相关的不良反应。AKKONE也不显示诱变活性。该菌株没有改变小鼠的血液学和临床生化参数。AKKONE处理不影响器官的重量。这些结果支持AKKONE在8.28×109CFU/kgbw/天的剂量下作为益生菌使用是安全的。
    In this study, the genome of Akkermansia muciniphila ONE (designated AKK ONE) was sequenced, assembled, and analyzed. In addition, the safety of this strain was further evaluated by toxicological studies. The results showed that the AKK ONE genome is contained on a single chromosome with a total length of 2,817,524 bp and an average GC content of 55.48%. In total, 2411, 1131, 1168, 1745, and 1402 genes were annotated to the NR, GO, KEGG, COG, and SwissProt database, respectively. Potential resistance genes, adeF, tetW, ANT(3″)-IIa, and aadA1 were detected. AKK ONE was sensitive to ampicillin, ceftriaxone, cefotaxime, meropenem, tetracycline, and chloramphenicol and resistant to moxifloxacin. No potential virulence-related genes were detected. The PathogenFinder database analysis showed that AKK ONE was a non-potential human pathogen. This strain had good gastroenteric fluid tolerance and a weak ability to colonize the gut. No test item-related adverse effects were observed in the acute and subchronic toxicity test. AKK ONE did not display mutagenic activity either. This strain did not change the hematological and clinical biochemical parameters of mice. The weights of the organs were not affected by AKK ONE treatment. These results support that AKK ONE is safe for use as a probiotic at a dose of 8.28 × 109 CFU/kg bw/day.
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  • 文章类型: Journal Article
    基因组注释历来忽略了小的开放阅读框(sMORF),编码一类短于100个氨基酸的蛋白质,统称为微蛋白。建立该截断值是为了避免由于纯基因组学管道的限制而导致的数千个假阳性。蛋白质组学,一种结合基因组学的计算方法,转录组学,和蛋白质组学,通过叠加不同水平的组学证据,可以准确地识别这些短序列。在这一章中,我们展示了μProteins的使用,开发了一个生物信息学管道,用于鉴定细菌中sMORF编码的未注释微蛋白。工作流程涵盖从质量控制和转录组组装到质谱数据的评分和后处理的所有步骤。此外,我们提供了一个示例,说明如何应用管道的机器学习方法来识别高置信度光谱,并从大型数据集中确定最可靠的识别。
    Genome annotation has historically ignored small open reading frames (smORFs), which encode a class of proteins shorter than 100 amino acids, collectively referred to as microproteins. This cutoff was established to avoid thousands of false positives due to limitations of pure genomics pipelines. Proteogenomics, a computational approach that combines genomics, transcriptomics, and proteomics, makes it possible to accurately identify these short sequences by overlaying different levels of omics evidence. In this chapter, we showcase the use of μProteInS, a bioinformatics pipeline developed for the identification of unannotated microproteins encoded by smORFs in bacteria. The workflow covers all the steps from quality control and transcriptome assembly to the scoring and post-processing of mass spectrometry data. Additionally, we provide an example on how to apply the pipeline\'s machine learning method to identify high-confidence spectra and pinpoint the most reliable identifications from large datasets.
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  • 文章类型: Journal Article
    微生物细胞工厂(MCF)已被用于构建增值化合物生产的可持续平台。为了优化新陈代谢并达到最佳生产力,合成生物学已经开发了各种遗传装置,通过基因编辑来改造微生物系统,高通量蛋白质工程,和动态调节。然而,目前的合成生物学方法仍然严重依赖人工设计,艰苦的测试,详尽的分析。新兴的人工智能(AI)和生物学跨学科领域已成为应对剩余挑战的关键。人工智能辅助微生物生产利用处理的力量,学习,在几秒钟内预测大量的生物数据,提供高概率的输出。有了训练有素的AI模型,传统的设计-构建-测试(DBT)循环已转变为多维设计-构建-测试-学习-预测(DBTLP)工作流程,显着提高了运营效率,减少了劳动力消耗。这里,我们全面回顾了人工智能辅助微生物生产的主要组成部分和最新进展,专注于基因组注释,AI辅助蛋白质工程,人工功能性蛋白质设计,和人工智能支持的路径预测。最后,我们讨论了将新型AI技术整合到生物学中的挑战,并提出了大型语言模型(LLM)在促进微生物生产方面的潜力。
    Microbial cell factories (MCFs) have been leveraged to construct sustainable platforms for value-added compound production. To optimize metabolism and reach optimal productivity, synthetic biology has developed various genetic devices to engineer microbial systems by gene editing, high-throughput protein engineering, and dynamic regulation. However, current synthetic biology methodologies still rely heavily on manual design, laborious testing, and exhaustive analysis. The emerging interdisciplinary field of artificial intelligence (AI) and biology has become pivotal in addressing the remaining challenges. AI-aided microbial production harnesses the power of processing, learning, and predicting vast amounts of biological data within seconds, providing outputs with high probability. With well-trained AI models, the conventional Design-Build-Test (DBT) cycle has been transformed into a multidimensional Design-Build-Test-Learn-Predict (DBTLP) workflow, leading to significantly improved operational efficiency and reduced labor consumption. Here, we comprehensively review the main components and recent advances in AI-aided microbial production, focusing on genome annotation, AI-aided protein engineering, artificial functional protein design, and AI-enabled pathway prediction. Finally, we discuss the challenges of integrating novel AI techniques into biology and propose the potential of large language models (LLMs) in advancing microbial production.
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