Thursday, 17 November 2016

MinION: 500kb reads and counting

A couple of Tweets today point to the amazing lengths Oxford Nanopores MinION sequencer is capable of generating - over 400kb!

Dominik Handler Tweeted a plot showing read distribution from a run . In replies following the Tweet he describes the DNA handling as involving "no tricks, just very careful DNA isolation and no, really no pipetting (ok 2x pipetting required)".

and Martin Smith Tweeted an even longer read, almost 500kb in length...

Exactly how easily we'll all see similar read lengths is unclear, but it is going to be hugely dependant on the sample and probably having "green fingers" as well.

Here's Dominics gel...

Wednesday, 9 November 2016

Unintended consequences of NGS-base NIPT?

The UK recently approved an NIPT test to screen high risk pregnancies for foetal trisomy 21, 13, or 18 after the current primary screening test, and in place of amniocentesis (following on from the results of the RAPID study). I am 100% in favour of this kind of testing and 100% in favour of individuals, or couples, making the choice of what to do with the results. But what are the consequences of this kind of testing and where do we go in a world where cfDNA foetal genomes are possible?

I decided to write this post after watching "A world Without Downs", a documentary on BBC2 that was presented by Sally Phillips (of Bridget Jones fame), mother to Olly who has Down's syndrome. She presented a program where the case for the test was made (just), but the programme was very clearly pro-Down's. Although not quite to the point of being anti-choice.