<![CDATA[BOL: Related items]]> https://bioinformaticsonline.com/related/37205?offset=30 https://bioinformaticsonline.com/blog/view/44751/large-language-models-in-bioinformatics-transforming-data-analysis-and-interpretation Thu, 02 Jan 2025 11:26:29 -0600 https://bioinformaticsonline.com/blog/view/44751/large-language-models-in-bioinformatics-transforming-data-analysis-and-interpretation <![CDATA[Large Language Models in Bioinformatics: Transforming Data Analysis and Interpretation]]> The integration of artificial intelligence (AI) into bioinformatics has ushered in a new era of computational biology. Among the most transformative advancements are large language models (LLMs), such as GPT and BERT, which leverage deep learning to process and interpret vast amounts of text data. These models are reshaping bioinformatics by enhancing data analysis, hypothesis generation, and literature mining.

Understanding Large Language Models

LLMs are AI systems trained on extensive datasets of natural language. Their ability to model context, identify patterns, and generate coherent language has proven invaluable across domains, including bioinformatics. By fine-tuning these models on biological datasets, researchers can unlock insights into molecular biology, systems biology, and beyond.

Key Applications of LLMs in Bioinformatics

1. Annotating Biological Data

Annotating genomic and proteomic data is fundamental yet labor-intensive. LLMs streamline this process by extracting functional annotations from literature and databases, predicting gene and protein functions, and providing automated insights.

2. Mining Scientific Literature

The exponential growth of publications presents a challenge for researchers to stay updated. LLMs can process large volumes of text to extract key findings, summarize papers, and identify trends, thereby facilitating efficient literature reviews.

3. Predicting Gene and Protein Functions

By leveraging sequence data and annotations, LLMs can predict the functions of uncharacterized genes and proteins. This capability is particularly useful for studying non-model organisms and orphan genes.

4. Drug Discovery and Repurposing

LLMs enable pattern recognition across chemical, genomic, and clinical datasets, identifying novel drug candidates and repurposing existing drugs for new therapeutic targets. They can simulate interactions between drugs and biological molecules, accelerating the discovery pipeline.

5. Generating Hypotheses for Research

LLMs analyze complex datasets to propose testable hypotheses. For example, they can predict protein-protein interactions, identify regulatory motifs, or model evolutionary processes in genomes.

Advantages of LLMs in Bioinformatics

  • Scalability: LLMs process massive datasets rapidly, reducing the time required for data analysis.

  • Versatility: These models adapt to diverse bioinformatics tasks, from genomic annotation to network analysis.

  • Contextual Insights: By synthesizing information across disparate datasets, LLMs provide integrative insights into biological systems.

Challenges in Applying LLMs

Despite their promise, LLMs face limitations:

  • Data Quality and Bias: Inaccurate or biased datasets can affect model predictions, necessitating rigorous data curation.

  • Interpretability: Understanding the decision-making process of LLMs remains a critical challenge, especially in high-stakes fields like genomics and medicine.

  • Resource Intensity: Training and deploying LLMs require substantial computational power, which can limit accessibility.

  • Ethical Concerns: Handling sensitive genomic data raises privacy and security issues, emphasizing the need for ethical guidelines.

Future Prospects

The continued development of LLMs tailored for bioinformatics promises exciting advancements. Specialized models trained on omics data, open-access platforms, and interdisciplinary collaborations will expand the utility of LLMs. Moreover, integrating LLMs with other AI technologies, such as graph neural networks and reinforcement learning, can unlock deeper biological insights.

Conclusion

Large language models are revolutionizing bioinformatics by addressing longstanding challenges in data annotation, literature mining, and function prediction. Their ability to analyze complex biological datasets efficiently positions them as indispensable tools for modern research. As bioinformatics embraces AI, the synergy between LLMs and biological sciences holds the potential to unravel the complexities of life with unprecedented precision and scale.

]]> LEGE https://bioinformaticsonline.com/bookmarks/view/34235/quorum-an-error-corrector-for-illumina-reads Wed, 08 Nov 2017 11:40:41 -0600 https://bioinformaticsonline.com/bookmarks/view/34235/quorum-an-error-corrector-for-illumina-reads <![CDATA[QuorUM: An Error Corrector for Illumina Reads]]> Illumina Sequencing data can provide high coverage of a genome by relatively short (most often 100 bp to 150 bp) reads at a low cost. Even with low (advertised 1%) error rate, 100 × coverage Illumina data on average has an error in some read at every base in the genome. These errors make handling the data more complicated because they result in a large number of low-count erroneous k-mers in the reads. However, there is enough information in the reads to correct most of the sequencing errors, thus making subsequent use of the data (e.g. for mapping or assembly) easier. Here we use the term “error correction” to denote the reduction in errors due to both changes in individual bases and trimming of unusable sequence. We developed an error correction software called QuorUM. QuorUM is mainly aimed at error correcting Illumina reads for subsequent assembly. It is designed around the novel idea of minimizing the number of distinct erroneous k-mers in the output reads and preserving the most true k-mers, and we introduce a composite statistic π that measures how successful we are at achieving this dual goal. We evaluate the performance of QuorUM by correcting actual Illumina reads from genomes for which a reference assembly is available.

QuorUM is distributed as an independent software package and as a module of the MaSuRCA assembly software. Both are available under the GPL open source license at http://www.genome.umd.edu.

Address of the bookmark: http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0130821

]]> Jit https://bioinformaticsonline.com/bookmarks/view/40893/quorum-an-error-corrector-for-illumina-reads Tue, 04 Feb 2020 23:26:55 -0600 https://bioinformaticsonline.com/bookmarks/view/40893/quorum-an-error-corrector-for-illumina-reads <![CDATA[QuorUM: An Error Corrector for Illumina Reads]]> We produce trimmed and error-corrected reads that result in assemblies with longer contigs and fewer errors. We compared QuorUM against several published error correctors and found that it is the best performer in most metrics we use. QuorUM is efficiently implemented making use of current multi-core computing architectures and it is suitable for large data sets (1 billion bases checked and corrected per day per core)

Address of the bookmark: http://www.genome.umd.edu/

]]> BioStar https://bioinformaticsonline.com/bookmarks/view/37473/lsc-a-long-read-error-correction-tool Thu, 02 Aug 2018 07:39:46 -0500 https://bioinformaticsonline.com/bookmarks/view/37473/lsc-a-long-read-error-correction-tool <![CDATA[LSC :a long read error correction tool]]> Getting Started

These simple steps will help you integrate LSC into your transcriptomics analysis pipeline.

  • Read the LSC_requirements for running LSC.
  • Download and set-up the LSC package.
  • Follow the tutorial to see how LSC works on some example data.
  • Read the manual if anything is unclear.
  • You're ready, Happy LSCing!

Latest publication

Kin Fai Au, Jason Underwood, Lawrence Lee and Wing Hung Wong 
Improving PacBio Long Read Accuracy by Short Read Alignment [Manuscript] 
PLoS ONE 2012. 7(10): e46679. doi:10.1371/journal.pone.0046679

Address of the bookmark: https://www.healthcare.uiowa.edu/labs/au/LSC/

]]> Jit https://bioinformaticsonline.com/bookmarks/view/38792/nxrepair-error-correction-in-de-novo-assemblies-using-nextera-mate-pair-reads Thu, 24 Jan 2019 10:35:12 -0600 https://bioinformaticsonline.com/bookmarks/view/38792/nxrepair-error-correction-in-de-novo-assemblies-using-nextera-mate-pair-reads <![CDATA[NxRepair: error correction in de novo assemblies using Nextera Mate Pair Reads]]> NxRepair is a python module that automatically detects large structural errors in de novo assemblies using Nextera mate pair reads. The decector will break a contig at the site of an identified misassembly and will generate a new fasta file containing both the corrected contigs and the correct, unaffected contigs.

https://nxrepair.readthedocs.io/en/latest/tutorial.html

nxrepair aligned_matepairs.bam assemblyfasta.fasta error_locations.csv new_fasta.fasta
 

Address of the bookmark: https://github.com/rebeccaroisin/nxrepair

]]> BioStar https://bioinformaticsonline.com/bookmarks/view/32131/wgs-celera-assembler-version-83rc2 Mon, 10 Apr 2017 04:45:40 -0500 https://bioinformaticsonline.com/bookmarks/view/32131/wgs-celera-assembler-version-83rc2 <![CDATA[WGS Celera Assembler version 8.3rc2]]> These are release notes for Celera Assembler version 8.3rc2, which was released on May 24, 2015.

This distribution package provides a stable, tested, documented version of the software.  The distribution is usable on most Unix-like platforms, and some platforms have pre-compiled binary distributions ready for installation.

The source code package includes full source code (revision 4627), Makefiles, and scripts.  A subset of the kmer package (http://kmer.sourceforge.net/, version r1994), used by some modules of Celera Assembler, is included.  This distribution includes [http://samtools.sourceforge.net/ SAMtools], [http://www.cbcb.umd.edu/software/jellyfish/ Jellyfish 2.0], [https://github.com/pbjd/pbutgcns PBUTGCNS], [https://github.com/PacificBiosciences/pbdagcon PBDAGCON], [https://github.com/PacificBiosciences/BLASR BLASR], and parts of the [https://github.com/PacificBiosciences/FALCON/tree/v0.1.3 Falcon assembler].

Full documentation can be found online at http://wgs-assembler.sourceforge.net/.

Interesting scripts within it

urbe@urbo214b[bin] ls                                                        []
-rwxrwxr-x 1 urbe urbe  11K Apr 10 11:41 addCNSToStore
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-rwxrwxr-x 1 urbe urbe 1,5M Apr 10 11:41 analyzeScaffolds
-rwxrwxr-x 1 urbe urbe 224K Apr 10 11:41 asmOutputFasta
-rwxrwxr-x 1 urbe urbe 448K Apr 10 11:41 asmOutputStatistics
-rwxrwxr-x 1 urbe urbe 2,4K Apr 10 11:41 asmToAGP.pl
-rwxrwxr-x 1 urbe urbe 7,6M Apr 10 11:41 blasr
-rwxrwxr-x 1 urbe urbe 1,6M Apr 10 11:41 bogart
-rwxrwxr-x 1 urbe urbe 183K Apr 10 11:41 bogus
-rwxrwxr-x 1 urbe urbe 272K Apr 10 11:41 bogusness
-rwxrwxr-x 1 urbe urbe 247K Apr 10 11:41 buildPosMap
-rwxrwxr-x 1 urbe urbe 213K Apr 10 11:41 buildRefContigs
-rwxrwxr-x 1 urbe urbe 990K Apr 10 11:41 buildUnitigs
-rwxrwxr-x 1 urbe urbe  18K Apr 10 11:41 ca2ace.pl
-rwxrwxr-x 1 urbe urbe  12K Apr 10 11:41 caqc_help.ini
-rwxrwxr-x 1 urbe urbe  61K Apr 10 11:41 caqc.pl
-rwxrwxr-x 1 urbe urbe  23K Apr 10 11:41 cat-corrects
-rwxrwxr-x 1 urbe urbe  24K Apr 10 11:41 cat-erates
-rwxrwxr-x 1 urbe urbe 1,9M Apr 10 11:41 cgw
-rwxrwxr-x 1 urbe urbe 1,4M Apr 10 11:41 cgwDump
-rwxrwxr-x 1 urbe urbe 204K Apr 10 11:41 chimChe
-rwxrwxr-x 1 urbe urbe 201K Apr 10 11:40 chimera
-rwxrwxr-x 1 urbe urbe 220K Apr 10 11:41 classifyMates
-rwxrwxr-x 1 urbe urbe 201K Apr 10 11:41 classifyMatesApply
-rwxrwxr-x 1 urbe urbe 215K Apr 10 11:41 classifyMatesPairwise
-rwxrwxr-x 1 urbe urbe 366K Apr 10 11:41 computeCoverageStat
-rwxrwxr-x 1 urbe urbe 9,8K Apr 10 11:41 convert-fasta-to-v2.pl
-rwxrwxr-x 1 urbe urbe  48K Apr 10 11:41 convertOverlap
-rwxrwxr-x 1 urbe urbe 119K Apr 10 11:41 convertSamToCA
-rwxrwxr-x 1 urbe urbe  20K Apr 10 11:41 convertToPBCNS
-rwxrwxr-x 1 urbe urbe 197K Apr 10 11:41 correct-frags
-rwxrwxr-x 1 urbe urbe 259K Apr 10 11:41 correct-olaps
-rwxrwxr-x 1 urbe urbe 520K Apr 10 11:41 correctPacBio
-rwxrwxr-x 1 urbe urbe 540K Apr 10 11:41 ctgcns
-rwxrwxr-x 1 urbe urbe 162K Apr 10 11:40 deduplicate
-rwxrwxr-x 1 urbe urbe  37K Apr 10 11:41 demotePosMap
-rwxrwxr-x 1 urbe urbe 1,5M Apr 10 11:41 dumpCloneMiddles
-rwxrwxr-x 1 urbe urbe 124K Apr 10 11:41 dumpPBRLayoutStore
-rwxrwxr-x 1 urbe urbe 1,3M Apr 10 11:41 dumpSingletons
-rwxrwxr-x 1 urbe urbe 171K Apr 10 11:41 erate-estimate
-rwxrwxr-x 1 urbe urbe 221K Apr 10 11:40 estimate-mer-threshold
-rwxrwxr-x 1 urbe urbe 1,5M Apr 10 11:41 extendClearRanges
-rwxrwxr-x 1 urbe urbe 1,3M Apr 10 11:41 extendClearRangesPartition
-rwxrwxr-x 1 urbe urbe 205K Apr 10 11:40 extractmessages
-rwxrwxr-x 1 urbe urbe 7,2M Apr 10 11:41 falcon_sense
-rwxrwxr-x 1 urbe urbe 9,8K Apr 10 11:41 fastaToCA
-rwxrwxr-x 1 urbe urbe 124K Apr 10 11:40 fastqAnalyze
-rwxrwxr-x 1 urbe urbe 137K Apr 10 11:40 fastqSample
-rwxrwxr-x 1 urbe urbe  62K Apr 10 11:40 fastqSimulate
-rwxrwxr-x 1 urbe urbe 121K Apr 10 11:40 fastqSimulate-sort
-rwxrwxr-x 1 urbe urbe 246K Apr 10 11:40 fastqToCA
-rwxrwxr-x 1 urbe urbe 140K Apr 10 11:41 filterOverlap
-rwxrwxr-x 1 urbe urbe 341K Apr 10 11:40 finalTrim
-rwxrwxr-x 1 urbe urbe 228K Apr 10 11:41 fixUnitigs
-rwxrwxr-x 1 urbe urbe 147K Apr 10 11:40 fragmentDepth
-rwxrwxr-x 1 urbe urbe  29K Apr 10 11:41 fragsInVars
-rwxrwxr-x 1 urbe urbe 545K Apr 10 11:41 frgs2clones
-rwxrwxr-x 1 urbe urbe 398K Apr 10 11:40 gatekeeper
-rwxrwxr-x 1 urbe urbe 139K Apr 10 11:40 gatekeeperbench
-rwxrwxr-x 1 urbe urbe 167K Apr 10 11:40 gkpStoreCreate
-rwxrwxr-x 1 urbe urbe 147K Apr 10 11:40 gkpStoreDumpFASTQ
-rwxrwxr-x 1 urbe urbe 184K Apr 10 11:41 greedyFragmentTiling
-rwxrwxr-x 1 urbe urbe 1,6K Apr 10 11:41 greedy_layout_to_IUM
-rwxrwxr-x 1 urbe urbe 142K Apr 10 11:40 initialTrim
-rwxrwxr-x 1 urbe urbe 967K Apr 10 11:41 jellyfish
-rwxrwxr-x 1 urbe urbe 219K Apr 10 11:41 markRepeatUnique
-rwxrwxr-x 1 urbe urbe 273K Apr 10 11:40 markUniqueUnique
-rwxrwxr-x 1 urbe urbe 114K Apr 10 11:40 mercy
-rwxrwxr-x 1 urbe urbe 3,8K Apr 10 11:41 mergeqc.pl
-rwxrwxr-x 1 urbe urbe 422K Apr 10 11:40 merTrim
-rwxrwxr-x 1 urbe urbe 125K Apr 10 11:40 merTrimApply
-rwxrwxr-x 1 urbe urbe 376K Apr 10 11:40 meryl
-rwxrwxr-x 1 urbe urbe 176K Apr 10 11:41 metagenomics_ovl_analyses
-rwxrwxr-x 1 urbe urbe 297K Apr 10 11:41 olap-from-seeds
-rwxrwxr-x 1 urbe urbe 275K Apr 10 11:41 outputLayout
-rwxrwxr-x 1 urbe urbe 229K Apr 10 11:41 overlapInCore
-rwxrwxr-x 1 urbe urbe 144K Apr 10 11:40 overlap_partition
-rwxrwxr-x 1 urbe urbe 179K Apr 10 11:41 overlapStats
-rwxrwxr-x 1 urbe urbe 179K Apr 10 11:41 overlapStore
-rwxrwxr-x 1 urbe urbe 153K Apr 10 11:41 overlapStoreBucketizer
-rwxrwxr-x 1 urbe urbe 175K Apr 10 11:41 overlapStoreBuild
-rwxrwxr-x 1 urbe urbe  33K Apr 10 11:41 overlapStoreIndexer
-rwxrwxr-x 1 urbe urbe  48K Apr 10 11:41 overlapStoreSorter
-rwxrwxr-x 1 urbe urbe 604K Apr 10 11:40 overmerry
lrwxrwxrwx 1 urbe urbe    4 Apr 10 11:41 pacBioToCA -> PBcR
-rwxrwxr-x 1 urbe urbe 131K Apr 10 11:41 PBcR
-rwxrwxr-x 1 urbe urbe 2,9M Apr 10 11:41 pbdagcon
-rwxrwxr-x 1 urbe urbe 1,9M Apr 10 11:41 pbutgcns
-rwxrwxr-x 1 urbe urbe 201K Apr 10 11:40 remove_fragment
-rwxrwxr-x 1 urbe urbe 153K Apr 10 11:40 removeMateOverlap
-rwxrwxr-x 1 urbe urbe 2,5K Apr 10 11:41 replaceUIDwithName-fastq
-rwxrwxr-x 1 urbe urbe 1,2K Apr 10 11:41 replaceUIDwithName-posmap
-rwxrwxr-x 1 urbe urbe 1,3M Apr 10 11:41 resolveSurrogates
-rwxrwxr-x 1 urbe urbe 139K Apr 10 11:41 rewriteCache
-rwxrwxr-x 1 urbe urbe 232K Apr 10 11:41 runCA
-rwxrwxr-x 1 urbe urbe  88K Apr 10 11:41 runCA-dedupe
-rwxrwxr-x 1 urbe urbe  14K Apr 10 11:41 runCA-overlapStoreBuild
-rwxrwxr-x 1 urbe urbe 3,6K Apr 10 11:41 run_greedy.csh
-rwxrwxr-x 1 urbe urbe 297K Apr 10 11:40 sffToCA
-rwxrwxr-x 1 urbe urbe  13K Apr 10 11:40 show-corrects
-rwxrwxr-x 1 urbe urbe 557K Apr 10 11:41 splitUnitigs
-rwxrwxr-x 1 urbe urbe 1,4M Apr 10 11:41 terminator
drwxrwxr-x 2 urbe urbe 4,0K Apr 10 11:41 TIGR
-rwxrwxr-x 1 urbe urbe 526K Apr 10 11:41 tigStore
-rwxrwxr-x 1 urbe urbe  35K Apr 10 11:41 tracearchiveToCA
-rwxrwxr-x 1 urbe urbe  35K Apr 10 11:41 tracedb-to-frg.pl
-rwxrwxr-x 1 urbe urbe  44K Apr 10 11:41 trimFastqByQVWindow
-rwxrwxr-x 1 urbe urbe  18K Apr 10 11:40 uidclient
-rwxrwxr-x 1 urbe urbe 589K Apr 10 11:41 unitigger
-rwxrwxr-x 1 urbe urbe  42K Apr 10 11:40 upgrade-v8-to-v9
-rwxrwxr-x 1 urbe urbe  42K Apr 10 11:40 upgrade-v9-to-v10
-rwxrwxr-x 1 urbe urbe  854 Apr 10 11:41 utg2fasta
-rwxrwxr-x 1 urbe urbe 731K Apr 10 11:41 utgcns
-rwxrwxr-x 1 urbe urbe 561K Apr 10 11:41 utgcnsfix


Address of the bookmark: http://wgs-assembler.sourceforge.net/wiki/index.php/Main_Page

]]> Jit https://bioinformaticsonline.com/bookmarks/view/43957/gfastats-the-swiss-army-knife-for-genome-assembly Thu, 08 Sep 2022 06:03:05 -0500 https://bioinformaticsonline.com/bookmarks/view/43957/gfastats-the-swiss-army-knife-for-genome-assembly <![CDATA[gfastats: The swiss army knife for genome assembly.]]> gfastats is a single fast and exhaustive tool for summary statistics and simultaneous *fa* (fasta, fastq, gfa [.gz]) genome assembly file manipulation. gfastats also allows seamless fasta<>fastq<>gfa[.gz] conversion. It has been tested in genomes even >100Gbp.

Address of the bookmark: https://github.com/vgl-hub/gfastats

]]> Abhi https://bioinformaticsonline.com/bookmarks/view/26972/understanding-fastqc-output Fri, 15 Apr 2016 05:47:40 -0500 https://bioinformaticsonline.com/bookmarks/view/26972/understanding-fastqc-output <![CDATA[Understanding Fastqc Output]]> Understanding Following table and graphs

  1. Duplication level
  2. kmer profile
  3. per base GC content
  4. per base N content
  5. per base quality
  6. per base sequence content
  7. per sequence GC content
  8. per sequence quality
  9. sequence length distribution

More at http://www.bioinformatics.babraham.ac.uk/projects/fastqc/Help/3%20Analysis%20Modules/

Address of the bookmark: http://www.bioinformatics.babraham.ac.uk/projects/fastqc/Help/3%20Analysis%20Modules/

]]> Jit https://bioinformaticsonline.com/bookmarks/view/33660/equant-energy-based-quality-assessment-of-protein Sat, 24 Jun 2017 19:24:24 -0500 https://bioinformaticsonline.com/bookmarks/view/33660/equant-energy-based-quality-assessment-of-protein <![CDATA[eQuant : energy-based quality assessment of protein]]> Protein structures are of varying quality. Especially, in-silico modeled structures are prone to contain serious errors, which limit the usefulness and reliability of these particular protein structures.

eQuant is a service for structure quality assessment of single proteins, which utilizes a coarse-grained energy model. The overall quality is calculated as well as the reliability of individual residues. You can submit single PDB files or archives containing a set of proteins.

https://biosciences.hs-mittweida.de/equant/

Address of the bookmark: https://biosciences.hs-mittweida.de/equant/

]]> Shruti Paniwala https://bioinformaticsonline.com/bookmarks/view/41831/merqury-reference-free-quality-and-phasing-assessment-for-genome-assemblies Sat, 06 Jun 2020 05:38:34 -0500 https://bioinformaticsonline.com/bookmarks/view/41831/merqury-reference-free-quality-and-phasing-assessment-for-genome-assemblies <![CDATA[Merqury: reference-free quality and phasing assessment for genome assemblies]]> Often, genome assembly projects have illumina whole genome sequencing reads available for the assembled individual. The k-mer spectrum of this read set can be used for independently evaluating assembly quality without the need of a high quality reference. Merqury provides a set of tools for this purpose.

https://github.com/marbl/meryl

Address of the bookmark: https://github.com/marbl/merqury

]]> Jit