Human genome sequencing update

SciTechDaily reports that the boffettes and boffins at Boston Children’s Hospital, in collaboration with Broad Clinical Labs and Roche Sequencing Solutions have set new speed and cost records for sequencing a person's entire genome. Out of a batch of 15 people whose DNA was fully sequenced, one was completed in less than 4 hours at a cost of ~$200. Sequencing a whole genome was within hours was possible, but those efforts did not employ data analysis protocols practical for widespread clinical use. Now that has changed.  

The first human genome was finally sequenced in 2003 after a 13-year effort that started as The Human Genome Project. That little task cost ~$2.85 billion to complete the job. Here, the job was not just sequencing the DNA. It included genetic analysis data that medical professional could use to treat genetic diseases. 

Monica Wojcik, MD, MPH, Attending Physician, Divisions of Newborn Medicine and Genetics and Genomics at Boston Children’s and the study’s first author commented: “Our pilot simulates a workflow through which we could feasibly send out a genome sequencing sample from a baby in the morning and have the diagnosis/report that same afternoon. This would truly be game-changing for rare disease diagnoses for our families, who are currently waiting for a week–at best–for diagnoses for their critically ill babies. The results of this study bring geneticists and clinicians one step closer to integrating point-of-care genome sequencing into the standard of care for critical care settings.”


Miscellaneous boffinology: Authorship
On research papers like this in biomedical science, natural sciences and computer science, the first author is usually called the "lead" author. That person is generally the person who designed and conducted the majority of the experiments or studies, performed most of the data collection, analysis, and interpretation​, wrote the initial draft of the manuscript, and/or​ led the day-to-day execution of the research project​. 

Being first author is typically needed for early-career researchers, graduate students, and people seeking academic tenure. Lead author status is evidence of ability to lead independent research. 

The last listed author is usually called the "senior" author or principal investigator (PI). That person usually is the most senior researcher on the project. They typically provide overall supervision and intellectual guidance for the project, ​secured funding and resources for the research, ​contributed the original research idea or conceptual framework They also often held to be the most responsible for (1) credit if the research stands up to scrutiny and is important, or (2) getting flak if there were flaws that should have been caught​. 

Modern research projects like this usually requires a fairly large number of researchers. This paper had over 30 authors.


By Germaine: Not a boffin, but boffin-adjacent!

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