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Eddie KK Ip on Muck Rack

Eddie KK Ip

As seen in: BioRxiv
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Articles

Systematic evaluation of de novo mutation calling tools using whole genome sequencing data

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By Michael Troup, Anushi Shah, Steven Monger, Eddie KK Ip
| BioRxiv
Abstract De novo mutations (DNMs) are genetic alterations that occur for the first time in an offspring. DNMs have been found to be a significant cause of severe developmental disorders. With the widespread use of next-generation sequencing (NGS) technologies, accurate detection of DNMs is crucial. Several bioinformatics tools have been developed to call DNMs from NGS data, but no study to date has systematically compared these tools.
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