Led by biomedical engineer
"Understanding the human genome is an immensely complex task and we need great methods to guide this research," Zook says. "By establishing reference materials and gold standard data sets, scientists are one step closer to bringing genome sequencing into clinical practice."
The methods put forth by the researchers make it increasingly possible to use an individual's genetic profile to guide medical decisions to prevent, diagnose, and treat diseases -- a priority of the
"We minimize biases toward any sequencing platform or data set by comparing and integrating 11 whole human genome and three exome data sets from five sequencing platforms," says Zook.
The team addressed the challenge with the expertise of
The researchers created a metric to determine the accuracy of gene variations and understand biases and sources of error in sequencing and bioinformatics methods.
Their findings are available to the public on the Genome Comparison and Analytic Testing website, known as GCAT, to enable real-time benchmarking of any DNA-sequencing method. The collaborative, free online resource compares multiple analysis tools across a variety of crowd-sourced metrics and data sets.
GCAT was built with the help of
TNS 30TagarumaMar-140227-4650315 30TagarumaMar
Most Popular Stories
- Obama, Ukraine Discuss Russian Incursion in Crimea
- Chinese May Have Spotted Malaysia Airlines Debris
- Social Media Causee Sleep Deprivation in Students
- First-time Jobless Claims Drop Unexpectedly
- Banks Buying Little From Minority Firms: Study
- General Electric Plans IPO of Credit Card Unit
- 'Candy Crush' Maker Files IPO
- First-time U.S. Jobless Claims Hit 3-month Low
- SXSW Crash Kills 2, Injures 23
- U.S. Business Inventories Up, Retail Sales Down