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In 26 Hours, Sick Newborns Go From Genome Scan To Diagnosis

Slashdot: Science - Fetched: October 14th, 2015, 2:00pm UTC

the_newsbeagle writes: Parsing the first human genome took a decade, but times have changed. Now, within 26 hours, doctors can scan a sick baby's entire genome and analyze the resulting list of mutations to produce a diagnosis. Since genetic diseases are the top cause of death for infants (abstract), rapidly diagnosing a rare genetic disease can be life-saving. The 26-hour pipeline results from automated technologies that handle everything from the genome sequencing to the diagnosis, says the doctor involved: "We want to take humans out of the equation, because we're the bottleneck."pdiv class="share_submission" style="position:relative;" a class="slashpop" href="http://twitter.com/home?status=In+26+Hours%2C+Sick+Newborns+Go+From+Genome+Scan+To+Diagnosis%3A+http%3A%2F%2Fbit.ly%2F1GHhjZU"img src="http://a.fsdn.com/sd/twitter_icon_large.png"/a a class="slashpop" href="http://www.facebook.com/sharer.php?u=http%3A%2F%2Fscience.slashdot.org%2Fstory%2F15%2F10%2F14%2F1611250%2Fin-26-hours-sick-newborns-go-from-genome-scan-to-diagnosis%3Futm_source%3Dslashdot%26utm_medium%3Dfacebook"img src="http://a.fsdn.com/sd/facebook_icon_large.png"/a a class="nobg" href="http://plus.google.com/share?url=http://science.slashdot.org/story/15/10/14/1611250/in-26-hours-sick-newborns-go-from-genome-scan-to-diagnosis?utm_source=slashdotamp;utm_medium=googleplus" onclick="javascript:window.open(this.href,'', 'menubar=no,toolbar=no,resizable=yes,scrollbars=yes,height=600,width=600');return false;"img src="http://www.gstatic.com/images/icons/gplus-16.png" alt="Share on Google+"//a /div/ppa href="http://science.slashdot.org/story/15/10/14/1611250/in-26-hours-sick-newborns-go-from-genome-scan-to-diagnosis?utm_source=rss1.0moreanonamp;utm_medium=feed"Read more of this story/a at Slashdot./pimg src="http://feeds.feedburner.com/~r/Slashdot/slashdotScience/~4/j8_qu4q2MPc" height="1" width="1" alt=""/

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