ExScalibur: A High-Performance Cloud-Enabled Suite for Whole Exome Germline and Somatic Mutation Identification
Whole exome sequencing has facilitated the discovery of causal genetic variants associated with human diseases at deep coverage and low cost. In particular, the detection of somatic mutations from tumor/normal pairs has provided insights into the cancer genome. Although there is an abundance of publ...
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| Published in: | PLOS ONE Vol. 10; no. 8; p. e0135800 |
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| Main Authors: | , , , , , , , |
| Format: | Journal Article |
| Language: | English |
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13.08.2015
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| ISSN: | 1932-6203, 1932-6203 |
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| Abstract | Whole exome sequencing has facilitated the discovery of causal genetic variants associated with human diseases at deep coverage and low cost. In particular, the detection of somatic mutations from tumor/normal pairs has provided insights into the cancer genome. Although there is an abundance of publicly-available software for the detection of germline and somatic variants, concordance is generally limited among variant callers and alignment algorithms. Successful integration of variants detected by multiple methods requires in-depth knowledge of the software, access to high-performance computing resources, and advanced programming techniques. We present ExScalibur, a set of fully automated, highly scalable and modulated pipelines for whole exome data analysis. The suite integrates multiple alignment and variant calling algorithms for the accurate detection of germline and somatic mutations with close to 99% sensitivity and specificity. ExScalibur implements streamlined execution of analytical modules, real-time monitoring of pipeline progress, robust handling of errors and intuitive documentation that allows for increased reproducibility and sharing of results and workflows. It runs on local computers, high-performance computing clusters and cloud environments. In addition, we provide a data analysis report utility to facilitate visualization of the results that offers interactive exploration of quality control files, read alignment and variant calls, assisting downstream customization of potential disease-causing mutations. ExScalibur is open-source and is also available as a public image on Amazon cloud. |
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| AbstractList | Whole exome sequencing has facilitated the discovery of causal genetic variants associated with human diseases at deep coverage and low cost. In particular, the detection of somatic mutations from tumor/normal pairs has provided insights into the cancer genome. Although there is an abundance of publicly-available software for the detection of germline and somatic variants, concordance is generally limited among variant callers and alignment algorithms. Successful integration of variants detected by multiple methods requires in-depth knowledge of the software, access to high-performance computing resources, and advanced programming techniques. We present ExScalibur, a set of fully automated, highly scalable and modulated pipelines for whole exome data analysis. The suite integrates multiple alignment and variant calling algorithms for the accurate detection of germline and somatic mutations with close to 99% sensitivity and specificity. ExScalibur implements streamlined execution of analytical modules, real-time monitoring of pipeline progress, robust handling of errors and intuitive documentation that allows for increased reproducibility and sharing of results and workflows. It runs on local computers, high-performance computing clusters and cloud environments. In addition, we provide a data analysis report utility to facilitate visualization of the results that offers interactive exploration of quality control files, read alignment and variant calls, assisting downstream customization of potential disease-causing mutations. ExScalibur is open-source and is also available as a public image on Amazon cloud. Whole exome sequencing has facilitated the discovery of causal genetic variants associated with human diseases at deep coverage and low cost. In particular, the detection of somatic mutations from tumor/normal pairs has provided insights into the cancer genome. Although there is an abundance of publicly-available software for the detection of germline and somatic variants, concordance is generally limited among variant callers and alignment algorithms. Successful integration of variants detected by multiple methods requires in-depth knowledge of the software, access to high-performance computing resources, and advanced programming techniques. We present ExScalibur, a set of fully automated, highly scalable and modulated pipelines for whole exome data analysis. The suite integrates multiple alignment and variant calling algorithms for the accurate detection of germline and somatic mutations with close to 99% sensitivity and specificity. ExScalibur implements streamlined execution of analytical modules, real-time monitoring of pipeline progress, robust handling of errors and intuitive documentation that allows for increased reproducibility and sharing of results and workflows. It runs on local computers, high-performance computing clusters and cloud environments. In addition, we provide a data analysis report utility to facilitate visualization of the results that offers interactive exploration of quality control files, read alignment and variant calls, assisting downstream customization of potential disease-causing mutations. ExScalibur is open-source and is also available as a public image on Amazon cloud.Whole exome sequencing has facilitated the discovery of causal genetic variants associated with human diseases at deep coverage and low cost. In particular, the detection of somatic mutations from tumor/normal pairs has provided insights into the cancer genome. Although there is an abundance of publicly-available software for the detection of germline and somatic variants, concordance is generally limited among variant callers and alignment algorithms. Successful integration of variants detected by multiple methods requires in-depth knowledge of the software, access to high-performance computing resources, and advanced programming techniques. We present ExScalibur, a set of fully automated, highly scalable and modulated pipelines for whole exome data analysis. The suite integrates multiple alignment and variant calling algorithms for the accurate detection of germline and somatic mutations with close to 99% sensitivity and specificity. ExScalibur implements streamlined execution of analytical modules, real-time monitoring of pipeline progress, robust handling of errors and intuitive documentation that allows for increased reproducibility and sharing of results and workflows. It runs on local computers, high-performance computing clusters and cloud environments. In addition, we provide a data analysis report utility to facilitate visualization of the results that offers interactive exploration of quality control files, read alignment and variant calls, assisting downstream customization of potential disease-causing mutations. ExScalibur is open-source and is also available as a public image on Amazon cloud. |
| Audience | Academic |
| Author | Volchenboum, Samuel Huang, Lei Andrade, Jorge Bartom, Elizabeth Kang, Wenjun Onel, Kenan Bao, Riyue Hernandez, Kyle |
| AuthorAffiliation | 2 Department of Pediatrics, The University of Chicago, Chicago, Illinois, United States of America 3 Computation Institute, The University of Chicago, Chicago, Illinois, United States of America 1 Center for Research Informatics, The University of Chicago, Chicago, Illinois, United States of America Children's Medical Research Institute, AUSTRALIA |
| AuthorAffiliation_xml | – name: 2 Department of Pediatrics, The University of Chicago, Chicago, Illinois, United States of America – name: Children's Medical Research Institute, AUSTRALIA – name: 3 Computation Institute, The University of Chicago, Chicago, Illinois, United States of America – name: 1 Center for Research Informatics, The University of Chicago, Chicago, Illinois, United States of America |
| Author_xml | – sequence: 1 fullname: Bao, Riyue – sequence: 2 orcidid: 0000-0001-8267-644x fullname: Hernandez, Kyle – sequence: 3 fullname: Huang, Lei – sequence: 4 fullname: Kang, Wenjun – sequence: 5 orcidid: 0000-0002-5618-2582 fullname: Bartom, Elizabeth – sequence: 6 fullname: Onel, Kenan – sequence: 7 fullname: Volchenboum, Samuel – sequence: 8 orcidid: 0000-0003-3210-2186 fullname: Andrade, Jorge |
| BackLink | https://cir.nii.ac.jp/crid/1874243915436908416$$DView record in CiNii https://www.ncbi.nlm.nih.gov/pubmed/26271043$$D View this record in MEDLINE/PubMed |
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| CitedBy_id | crossref_primary_10_1158_2159_8290_CD_16_0607 crossref_primary_10_1016_j_csbj_2017_10_001 crossref_primary_10_3389_fmolb_2023_1169109 crossref_primary_10_1002_humu_23275 crossref_primary_10_1038_s41598_018_25022_6 crossref_primary_10_1002_2211_5463_13261 crossref_primary_10_1158_1078_0432_CCR_24_2785 crossref_primary_10_7717_peerj_11724 crossref_primary_10_1093_annonc_mdx682 crossref_primary_10_1186_s12859_019_2791_8 |
| Cites_doi | 10.1186/1471-2164-15-S3-S5 10.1093/bioinformatics/btt375 10.1038/ng.806 10.1038/nature11247 10.1038/ng.2892 10.1186/gb-2013-14-8-r90 10.1186/1471-2105-14-189 10.1093/bioinformatics/btt183 10.1093/bioinformatics/bts271 10.1038/ng1090 10.1002/0471250953.bi1110s43 10.1093/bioinformatics/btt314 10.1186/gm432 10.1101/gr.129684.111 10.1038/nbt.1754 10.1056/NEJMoa1301689 10.1038/nature11632 10.1093/nar/gkq603 10.1371/journal.pone.0041948 10.1093/bioinformatics/btu356 10.1186/1471-2105-15-30 10.1093/bioinformatics/btv112 10.1093/bioinformatics/btu595 10.1093/bioinformatics/btp324 10.1186/1479-7364-8-14 10.1093/bib/bbs017 10.1038/ng.3036 10.1186/1471-2105-14-S7-S11 10.1093/bioinformatics/btp352 10.1038/nbt.2514 10.1093/bioinformatics/btr665 10.1186/1471-2105-13-8 10.1038/nmeth0410-248 10.1371/journal.pone.0030377 10.1038/nbt.2835 10.1093/nar/gkt1113 10.1371/journal.pone.0095217 |
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| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 Conceived and designed the experiments: RB KH LH SV JA. Performed the experiments: RB KH LH WK. Analyzed the data: RB KH LH. Contributed reagents/materials/analysis tools: KO EB. Wrote the paper: RB KH LH WK EB KO SV JA. Developed and implemented the pipelines and software: RB KH. Evaluated the pipelines: RB KH LH. Built Amazon EC2 environments: WK. Competing Interests: The authors have declared that no competing interests exist. Current address: Department of Biochemistry and Molecular Genetics, Northwestern University, Chicago, Illinois, United States of America |
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| References | J O'Rawe (ref2) 2013; 5 ref35 ref37 K Cibulskis (ref20) 2013; 31 C Raczy (ref18) 2013; 29 JT Robinson (ref45) 2011; 29 NF Hansen (ref21) 2013; 29 P Cingolani (ref36) 2015; 31 H Li (ref13) 2014; 30 CT Saunders (ref23) 2012; 28 D Botstein (ref1) 2003; 33 ref16 M Kircher (ref30) 2014; 46 ref38 JM Zook (ref44) 2014; 32 M Fischer (ref6) 2012; 7 S Kim (ref25) 2013; 14 H Li (ref12) 2009; 25 A Tan (ref43) 2015; 31 MA DePristo (ref15) 2011; 43 JG Reid (ref11) 2014; 15 H Li (ref17) 2009; 25 K Wang (ref34) 2010; 38 J Li (ref5) 2014; 9 ref42 M Mutarelli (ref9) 2014; 15 ref41 M D'Antonio (ref10) 2013; 14 SA Forbes (ref32) 2014 T Derrien (ref28) 2012; 7 (ref39) 2013; 368 DE Larson (ref22) 2012; 28 (ref27) 2012; 489 ref29 G Van der Auwera (ref14) 2013; 43 ND Roberts (ref4) 2013; 29 (ref26) 2012; 491 M Pirooznia (ref7) 2014; 8 IA Adzhubei (ref31) 2010; 7 MJ Landrum (ref33) 2014; 42 ref40 SY Kim (ref3) 2013; 14 D Challis (ref8) 2012; 13 A Rimmer (ref19) 2014; 46 H Thorvaldsdottir (ref46) 2013; 14 DC Koboldt (ref24) 2012; 22 |
| References_xml | – volume: 15 start-page: S5 issue: Suppl 3 year: 2014 ident: ref9 article-title: A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders publication-title: BMC genomics doi: 10.1186/1471-2164-15-S3-S5 – ident: ref37 – volume: 29 start-page: 2223 issue: 18 year: 2013 ident: ref4 article-title: A comparative analysis of algorithms for somatic SNV detection in cancer publication-title: Bioinformatics doi: 10.1093/bioinformatics/btt375 – volume: 43 start-page: 491 issue: 5 year: 2011 ident: ref15 article-title: A framework for variation discovery and genotyping using next-generation DNA sequencing data publication-title: Nat Genet doi: 10.1038/ng.806 – volume: 489 start-page: 57 issue: 7414 year: 2012 ident: ref27 article-title: An integrated encyclopedia of DNA elements in the human genome publication-title: Nature doi: 10.1038/nature11247 – volume: 46 start-page: 310 issue: 3 year: 2014 ident: ref30 article-title: A general framework for estimating the relative pathogenicity of human genetic variants publication-title: Nat Genet doi: 10.1038/ng.2892 – volume: 14 start-page: R90 issue: 8 year: 2013 ident: ref25 article-title: Virmid: accurate detection of somatic mutations with sample impurity inference publication-title: Genome biology doi: 10.1186/gb-2013-14-8-r90 – ident: ref29 – volume: 14 start-page: 189 year: 2013 ident: ref3 article-title: Comparing somatic mutation-callers: beyond Venn diagrams publication-title: BMC bioinformatics doi: 10.1186/1471-2105-14-189 – volume: 29 start-page: 1498 issue: 12 year: 2013 ident: ref21 article-title: Shimmer: detection of genetic alterations in tumors using next-generation sequence data publication-title: Bioinformatics doi: 10.1093/bioinformatics/btt183 – ident: ref41 – year: 2014 ident: ref32 article-title: COSMIC: exploring the world's knowledge of somatic mutations in human cancer publication-title: Nucleic acids research – volume: 28 start-page: 1811 issue: 14 year: 2012 ident: ref23 article-title: Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs publication-title: Bioinformatics doi: 10.1093/bioinformatics/bts271 – volume: 33 start-page: 228 issue: Suppl year: 2003 ident: ref1 article-title: Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease publication-title: Nat Genet doi: 10.1038/ng1090 – volume: 43 start-page: 11.0.1 year: 2013 ident: ref14 article-title: From FastQ Data to High-Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline publication-title: Current Protocols in Bioinformatics doi: 10.1002/0471250953.bi1110s43 – volume: 29 start-page: 2041 issue: 16 year: 2013 ident: ref18 article-title: Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms publication-title: Bioinformatics doi: 10.1093/bioinformatics/btt314 – volume: 5 start-page: 28 issue: 3 year: 2013 ident: ref2 article-title: Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing publication-title: Genome medicine doi: 10.1186/gm432 – volume: 22 start-page: 568 issue: 3 year: 2012 ident: ref24 article-title: VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing publication-title: Genome research doi: 10.1101/gr.129684.111 – volume: 29 start-page: 24 issue: 1 year: 2011 ident: ref45 article-title: Integrative genomics viewer publication-title: Nature biotechnology doi: 10.1038/nbt.1754 – volume: 368 start-page: 2059 issue: 22 year: 2013 ident: ref39 article-title: Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia publication-title: The New England journal of medicine doi: 10.1056/NEJMoa1301689 – volume: 491 start-page: 56 issue: 7422 year: 2012 ident: ref26 article-title: An integrated map of genetic variation from 1,092 human genomes publication-title: Nature doi: 10.1038/nature11632 – volume: 38 start-page: e164 issue: 16 year: 2010 ident: ref34 article-title: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data publication-title: Nucleic acids research doi: 10.1093/nar/gkq603 – volume: 7 start-page: e41948 issue: 8 year: 2012 ident: ref6 article-title: SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data publication-title: PloS one doi: 10.1371/journal.pone.0041948 – volume: 30 start-page: 2843 issue: 20 year: 2014 ident: ref13 article-title: Towards Better Understanding of Artifacts in Variant Calling from High-Coverage Samples publication-title: Bioinformatics doi: 10.1093/bioinformatics/btu356 – ident: ref38 – volume: 15 start-page: 30 year: 2014 ident: ref11 article-title: Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline publication-title: BMC bioinformatics doi: 10.1186/1471-2105-15-30 – volume: 31 start-page: 2202 issue: 13 year: 2015 ident: ref43 article-title: Unified representation of genetic variants publication-title: Bioinformatics doi: 10.1093/bioinformatics/btv112 – volume: 31 start-page: 10 issue: 1 year: 2015 ident: ref36 article-title: BigDataScript: a scripting language for data pipelines publication-title: Bioinformatics doi: 10.1093/bioinformatics/btu595 – volume: 25 start-page: 1754 issue: 14 year: 2009 ident: ref12 article-title: Fast and accurate short read alignment with Burrows-Wheeler transform publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp324 – volume: 8 start-page: 14 year: 2014 ident: ref7 article-title: Validation and assessment of variant calling pipelines for next-generation sequencing publication-title: Human genomics doi: 10.1186/1479-7364-8-14 – volume: 14 start-page: 178 issue: 2 year: 2013 ident: ref46 article-title: Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration publication-title: Briefings in bioinformatics doi: 10.1093/bib/bbs017 – ident: ref42 – volume: 46 start-page: 912 issue: 8 year: 2014 ident: ref19 article-title: Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications publication-title: Nat Genet doi: 10.1038/ng.3036 – ident: ref40 – volume: 14 start-page: S11 issue: Suppl 7 year: 2013 ident: ref10 article-title: WEP: a high-performance analysis pipeline for whole-exome data publication-title: BMC bioinformatics doi: 10.1186/1471-2105-14-S7-S11 – volume: 25 start-page: 2078 issue: 16 year: 2009 ident: ref17 article-title: The Sequence Alignment/Map format and SAMtools publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp352 – volume: 31 start-page: 213 issue: 3 year: 2013 ident: ref20 article-title: Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples publication-title: Nature biotechnology doi: 10.1038/nbt.2514 – volume: 28 start-page: 311 issue: 3 year: 2012 ident: ref22 article-title: SomaticSniper: identification of somatic point mutations in whole genome sequencing data publication-title: Bioinformatics doi: 10.1093/bioinformatics/btr665 – volume: 13 start-page: 8 year: 2012 ident: ref8 article-title: An integrative variant analysis suite for whole exome next-generation sequencing data publication-title: BMC bioinformatics doi: 10.1186/1471-2105-13-8 – volume: 7 start-page: 248 issue: 4 year: 2010 ident: ref31 article-title: A method and server for predicting damaging missense mutations publication-title: Nature methods doi: 10.1038/nmeth0410-248 – volume: 7 start-page: e30377 issue: 1 year: 2012 ident: ref28 article-title: Fast computation and applications of genome mappability publication-title: PloS one doi: 10.1371/journal.pone.0030377 – volume: 32 start-page: 246 issue: 3 year: 2014 ident: ref44 article-title: Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls publication-title: Nature biotechnology doi: 10.1038/nbt.2835 – ident: ref16 – ident: ref35 – volume: 42 start-page: D980 issue: Database issue year: 2014 ident: ref33 article-title: ClinVar: public archive of relationships among sequence variation and human phenotype publication-title: Nucleic acids research doi: 10.1093/nar/gkt1113 – volume: 9 start-page: e95217 issue: 4 year: 2014 ident: ref5 article-title: Bioinformatics pipelines for targeted resequencing and whole-exome sequencing of human and mouse genomes: a virtual appliance approach for instant deployment publication-title: PloS one doi: 10.1371/journal.pone.0095217 |
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