Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
'Announcement We've Been Waiting For'
"My Twitter feed just exploded," Matthew Herper says. "No one is talking about much else right now," the Broad Institute's Chad Nusbaum tells Forbes. "This is the megaton sequencing announcement we've been waiting for," Nick Loman writes at Pathogens: Genes and Genomes.
We are, of course, referring to Oxford Nanopore's announcement of two new DNA strand-sequencing systems at the Advances in Genome Biology and Technology meeting held on Marco Island, Fla., last week. (Our sister publication In Sequence has more on the GridIon and MinIon.)
In addition to sending shockwaves across the blogs and on Twitter — "ILMN [Illumina] cheers storing genomes on a USB stick while Oxford Nanopore was showing sequencing genomes with a USB stick," @rob_carlson writes, while @GenomeBiology says "Oxford Nanopore had everyone talking at lunch. Is the MinIon going to be the next-next-gen? Wow," and @Copenhagenomics calls the new technology "a potential game changer" — Nanopore's announcements shook up the stock market, presumably causing the declines observed in some sequencing companies' share values Friday afternoon. (GenomeWeb Daily News breaks those declines down.)
"Too many amazing @nanopore tweets to retweet them all," Loman says. Daily Scan couldn't agree more.
A $900 instrument-free genome
A $900 instrument-free genome the size of a memory stick?! Sounds like a game-changer to me. Of course, the real bottleneck remains the bioinformatics & biostatistics tools necessary to interpret genomics-level megadata. The real advances will come from genetic epidemiology.
Not quite, I think. Read the
Not quite, I think. Read the announcement again: the $900 MinIon will give you less than 1 Mbp over 6 hours and then the chip burns out. For a human Genome, they are talking about 20 GridIon stacked on a rack, at $30,000 apiece (plus the 20 chips and reagents). Still, a human genome in 15 minutes wouldn't be too shabby, I will give you that... Let's see what they deliver and at what accuracy (their high accuracy requires lower speeds).