Churchill Software Performs Analysis Of Human Genome In < Two Hours
@sharvari-panchbhai-JOvYc6
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Oct 26, 2024
Oct 26, 2024
1.7K
The sequencing of human genome can be done at wider scale in a matter of days with the advances in genome sequencing technology. However, the present approaches used for analyzing the sequenced data with billions of data points are dependent on parallelization strategies. The drawback of these strategies is that they have finite scalability, complex implementation and also lack reproducibility. In order to address and overcome these challenges, investigators at Nationwide Children’s Hospital in Ohio have created novel highly scalable software called ‘Churchill’.
Headed by Dr. Peter White, the team has automated the analytical process for examining human genome for disease-causing variations. Unlike other processes that take weeks for performing deep analysis of a whole genome sample, this computational technique is called the balanced regional parallelization strategy and is performed in less than two hours (around 90 minutes). The genetic variant list of the genome generated within minimal time is then used for clinical interpretation and tertiary analysis. By using the benchmarks specified by National Institute of Standards and Technology (NIST), the output of the software was validated. After validation, it was found that the output of Churchill is 99.7 percent sensitive, 99.99 percent accurate and scores 99.66 percent on diagnostic effectiveness.
The main reason for developing the ultra-fast analysis pipeline is to perform quick diagnosis of monogenic disease that can be critical in newborns. And, now it can be used for large scale implementation as it can perform complete analysis of raw sequence dataset of 1000 genomes in a week by using cloud resources. For commercializing Churchill, it has been licensed to a company called GenomeNext. The research paper was published in the latest issue of the journal Genome Biology.
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Headed by Dr. Peter White, the team has automated the analytical process for examining human genome for disease-causing variations. Unlike other processes that take weeks for performing deep analysis of a whole genome sample, this computational technique is called the balanced regional parallelization strategy and is performed in less than two hours (around 90 minutes). The genetic variant list of the genome generated within minimal time is then used for clinical interpretation and tertiary analysis. By using the benchmarks specified by National Institute of Standards and Technology (NIST), the output of the software was validated. After validation, it was found that the output of Churchill is 99.7 percent sensitive, 99.99 percent accurate and scores 99.66 percent on diagnostic effectiveness.
The main reason for developing the ultra-fast analysis pipeline is to perform quick diagnosis of monogenic disease that can be critical in newborns. And, now it can be used for large scale implementation as it can perform complete analysis of raw sequence dataset of 1000 genomes in a week by using cloud resources. For commercializing Churchill, it has been licensed to a company called GenomeNext. The research paper was published in the latest issue of the journal Genome Biology.
Source: #-Link-Snipped-# | #-Link-Snipped-#