Second sequenced family emerges from anonymity

It's a big week for family genomics. I wrote a couple of days ago about the West family, all four members of which recently had their entire genomes sequenced by Illumina. Now an article in the Salt Lake Tribune reveals the identity of yet another four-person nuclear family with complete genome sequences: the wife and two step-children of Utah geneticist Lynn Jorde, as well as the children's biological father.

This family were sequenced to explore the basis of the two separate rare, severe genetic diseases (Miller syndrome and primary ciliary dyskinesia) that affect the two children - that study was published recently (and I wrote about it here), but the identity of the family in question wasn't revealed until yesterday.

More like this

Not Exactly Pocket Science is a set of shorter write-ups on new stories with links to more detailed takes by the world's best journalists and bloggers. It is meant to complement the usual fare of detailed pieces that are typical for this blog. Geneticist sequences own genome, finds genetic…
About 18,545 years ago, give or take a few decades, a woolly mammoth died. Succumbing to causes unknown, the creature was buried in Siberian snow. Many other mammoths must have met similar fates but this one, which we now know as M4, is special. Almost 20 millennia later, its beautifully preserved…
This is the story of a Turkish boy, who became the first person to have a genetic disorder diagnosed by thoroughly sequencing his genome. He is known only through his medical case notes as GIT 264-1 but for the purposes of this tale, I'm going to call Baby T. At a mere five months of age, Baby T…
Meet !Gubi, the tribal elder of a group of Bushmen (or Khoisan), one of the oldest known human lineages. He lives the life of a hunter-gatherer in the Namibian part of the Kalahari Desert. But he also has a strange connection to James Watson, the British American scientist who helped to discover…