Investigators at Nationwide Children\u2019s Hospital have developed an analysis \u201cpipeline\u201d that slashes the time it takes to search a person\u2019s genome for disease-causing variations from weeks to hours. <\/p>\n
\u201cIt took around 13 years and $3 billion to sequence the first human genome,\u201d says Peter White, PhD, principal investigator and director of the Biomedical Genomics Core at Nationwide Children\u2019s and the study\u2019s senior author. \u201cNow, even the smallest research groups can complete genomic sequencing in a matter of days. However, once you\u2019ve generated all that data, that\u2019s the point where many groups hit a wall. After a genome is sequenced, scientists are left with billions of data points to analyse before any truly useful information can be gleaned for use in research and clinical settings.\u201d<\/p>\n
To overcome the challenges of analysing that large amount of data, Dr. White and his team developed a computational pipeline called \u201cChurchill.\u201d By using novel computational techniques, Churchill allows efficient analysis of a whole genome sample in as little as 90 minutes.<\/p>\n
\u201cChurchill fully automates the analytical process required to take raw sequence data through a series of complex and computationally intensive processes, ultimately producing a list of genetic variants ready for clinical interpretation and tertiary analysis,\u201d Dr. White explains. \u201cEach step in the process was optimized to significantly reduce analysis time, without sacrificing data integrity, resulting in an analysis method that is 100 percent reproducible.\u201d<\/p>\n
The output of Churchill was validated using National Institute of Standards and Technology (NIST) benchmarks. In comparison with other computational pipelines, Churchill was shown to have the highest sensitivity at 99.7 percent; highest accuracy at 99.99 percent and the highest overall diagnostic effectiveness at 99.66 percent.<\/p>\n
\u201cAt Nationwide Children\u2019s we have a strategic goal to introduce genomic medicine into multiple domains of paediatric research and healthcare. Rapid diagnosis of monogenic disease can be critical in new-borns, so our initial focus was to create an analysis pipeline that was extremely fast, but didn\u2019t sacrifice clinical diagnostic standards of reproducibility and accuracy\u201d says Dr. White. \u201cHaving achieved that, we discovered that a secondary benefit of Churchill was that it could be adapted for population scale genomic analysis.\u201d<\/p>\n
By examining the computational resource use during the data analysis process, Dr. White\u2019s team was able to demonstrate that Churchill was both highly efficient (>90 percent resource utilization) and scaled very effectively across many servers. Alternative approaches limit analysis to a single server and have resource utilization as low as 30 percent. This efficiency and capability to scale enables population-scale genomic analysis to be performed.\nNationwide Children\u2019s Hospital<\/link>\n","protected":false},"excerpt":{"rendered":"
Investigators at Nationwide Children\u2019s Hospital have developed an analysis \u201cpipeline\u201d that slashes the time it takes to search a person\u2019s genome for disease-causing variations from weeks to hours. \u201cIt took around 13 years and $3 billion to sequence the first human genome,\u201d says Peter White, PhD, principal investigator and director of the Biomedical Genomics Core […]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[35],"tags":[],"_links":{"self":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1472"}],"collection":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/comments?post=1472"}],"version-history":[{"count":0,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1472\/revisions"}],"wp:attachment":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/media?parent=1472"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/categories?post=1472"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/tags?post=1472"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}