Dataset Information

Performance of genetic programming optimised Bowtie2 on genome comparison and analytic testing (GCAT) benchmarks.

ABSTRACT: BACKGROUND:Genetic studies are increasingly based on short noisy next generation scanners. Typically complete DNA sequences are assembled by matching short NextGen sequences against reference genomes. Despite considerable algorithmic gains since the turn of the millennium, matching both single ended and paired end strings to a reference remains computationally demanding. Further tailoring Bioinformatics tools to each new task or scanner remains highly skilled and labour intensive. With this in mind, we recently demonstrated a genetic programming based automated technique which generated a version of the state-of-the-art alignment tool Bowtie2 which was considerably faster on short sequences produced by a scanner at the Broad Institute and released as part of The Thousand Genome Project. RESULTS:Bowtie2 (G P) and the original Bowtie2 release were compared on bioplanet's GCAT synthetic benchmarks. Bowtie2 (G P) enhancements were also applied to the latest Bowtie2 release (2.2.3, 29 May 2014) and retained both the GP and the manually introduced improvements. CONCLUSIONS:On both singled ended and paired-end synthetic next generation DNA sequence GCAT benchmarks Bowtie2GP runs up to 45% faster than Bowtie2. The lost in accuracy can be as little as 0.2-0.5% but up to 2.5% for longer sequences.

SUBMITTER: Langdon WB

PROVIDER: S-EPMC4304608 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Performance of genetic programming optimised Bowtie2 on genome comparison and analytic testing (GCAT) benchmarks.

Langdon W B WB

BioData mining 20150108 1

<h4>Background</h4>Genetic studies are increasingly based on short noisy next generation scanners. Typically complete DNA sequences are assembled by matching short NextGen sequences against reference genomes. Despite considerable algorithmic gains since the turn of the millennium, matching both single ended and paired end strings to a reference remains computationally demanding. Further tailoring Bioinformatics tools to each new task or scanner remains highly skilled and labour intensive. With t ...[more]

PMID: 25621011

Similar Datasets

Project description:PURPOSE:To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. METHODS:Preclinical workup included linked short tandem repeat (STR) marker selection and primer design for loci of interest. It was followed by a family haplotyping, after which an in vitro fertilization preimplantation genetic testing (IVF-PGT) cycle was carried out. A total of 62 embryos were retrieved from nine couples with a confirmed single gene disorder being transmitted in their family with various inheritance traits-autosomal dominant (genes-ACTA2, HTT, KRT14), autosomal recessive (genes-ALOX12B, TPP1, GLB1) and X-linked (genes-MTM1, DMD). Whole genome amplification (WGA) for the day 5 embryo trophectoderm single biopsies was carried out by multiple displacement amplification (MDA) or polymerase chain reaction (PCR)-based technology OmniPlex and was used for direct (Sanger sequencing, fragment size analysis, SNaPshot) and indirect mutation assessment (STR marker haplotyping), and embryo aneuploidy testing by array comparative genome hybridization (aCGH). RESULTS:Family haplotyping revealed informative/semi-informative microsatellite markers for all clinical cases for all types of inheritance. Indirect testing gave a persuasive conclusion for all embryos assessed, which was confirmed through direct testing. The overall allele dropout (ADO) rate was higher for PCR-based WGA, and MDA shows a better genomic recovery scale. Five euploid embryos were subjected to elective single embryo transfer (eSET), which resulted in four clinical pregnancies and birth of two healthy children, which proved free of disease causative variants running in the family postnataly. CONCLUSIONS:A developed multifactor PGT protocol can be adapted and applied to virtually any genetic condition and is capable of improving single gene disorder preimplantation genetic testing in a patient-tailored manner thus increasing pregnancy rates, saving costs and increasing patient reliability.

Project description:Research productivity and impact are often considered in professional evaluations of academics, and performance metrics based on publications and citations increasingly are used in such evaluations. To promote evidence-based and informed use of these metrics, we collected publication and citation data for 437 tenure-track faculty members at 33 research-extensive universities in the United States belonging to the National Association of University Fisheries and Wildlife Programs. For each faculty member, we computed 8 commonly used performance metrics based on numbers of publications and citations, and recorded covariates including academic age (time since Ph.D.), sex, percentage of appointment devoted to research, and the sub-disciplinary research focus. Standardized deviance residuals from regression models were used to compare faculty after accounting for variation in performance due to these covariates. We also aggregated residuals to enable comparison across universities. Finally, we tested for temporal trends in citation practices to assess whether the "law of constant ratios", used to enable comparison of performance metrics between disciplines that differ in citation and publication practices, applied to fisheries and wildlife sub-disciplines when mapped to Web of Science Journal Citation Report categories. Our regression models reduced deviance by ¼ to ½. Standardized residuals for each faculty member, when combined across metrics as a simple average or weighted via factor analysis, produced similar results in terms of performance based on percentile rankings. Significant variation was observed in scholarly performance across universities, after accounting for the influence of covariates. In contrast to findings for other disciplines, normalized citation ratios for fisheries and wildlife sub-disciplines increased across years. Increases were comparable for all sub-disciplines except ecology. We discuss the advantages and limitations of our methods, illustrate their use when applied to new data, and suggest future improvements. Our benchmarking approach may provide a useful tool to augment detailed, qualitative assessment of performance.

Dataset Information

Performance of genetic programming optimised Bowtie2 on genome comparison and analytic testing (GCAT) benchmarks.

Publications

Performance of genetic programming optimised Bowtie2 on genome comparison and analytic testing (GCAT) benchmarks.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets