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The immortal HeLa genome

Looking for a good read? Then check out The Immortal Life of Henrietta Lacks! This book is an amazing biography and journey of the HeLa Gemone and a favorite book among many life scientists.

Musings of a mitochondriac

Henrietta Lacks could never have imagined that tiny, invisible parts of her would enthrall, empower, and perplex scientists for decades. In 1951, she developed a particularly aggressive cervical cancer, which unfortunately could not be treated – Henrietta died just a few months later. But her cells lived on, becoming arguably one of biology’s most valuable tools for decades to come.

Yet until now, our knowledge of the genetics of these so-called HeLa cells was rather hazy. I’m happy to be part of the team that has just published the first genome sequence of a HeLa cell line. (We were a little shocked by the amount of coverage our press release generated, even including a NatureNews feature!) Here I’d like to explain why we did this and what we learned – and perhaps also importantly, what we did not learn.

(Part 2 of this post will be an interview…

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Genomics Software – An Overview

Genomics Software

Genomics software is used by scientists and clinicians to analyze genomes.  In other words, it is software that helps laboratory personnel to make sense of large amounts of DNA sequence data.

Since the throughput of sequencers has risen greatly in recent years, along with even more striking decreases in the cost of both sequencers and sequencing run, many more genomes are being sequenced than ever before.  This has created a situation where genomic data is generated faster than it can be analyzed.  Genomics software was a creature of necessity to help analyze, manage, and store these troves of genetic data.

Genomics software can serve a multitude of purposes.  It can provide primary analysis on sequenced genomes (generally QA and related stats), it can perform secondary analysis (things like mutation identification, finding short tandem repeats, and identifying other genomic abnormalities), or more rarely perform tertiary analysis (providing insight into the meaning…

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