Monday, November 06, 2017

A Nucleotide Mixture-Based Error Correcting Short Read Chemistry

Sometimes polony-style short read sequencing seems like old news.  The underlying technology has been commercially available for over a decade.  I focus much of my attention to gains in long read technologies, though incremental improvements to read lengths or polony densities still appear.  Now in Nature Biotechnology a group from Peking University has published a new twist on sequencing-by-synthesis that is claimed to offer significant improvements on read accuracy.

Wednesday, November 01, 2017

AlphaGo & Biology

A comment was left on an early piece suggesting I comment on the recent AlphaGo paper and the possible applicability of this approach to biomedical sciences.  I'm not sure I have anything terribly original to say, but who can refuse a request?

Tuesday, October 17, 2017

Mission Bio Launches Tapestri Single Cell Platform

The fact that tumors and their immediate environment is genetically heterogeneous has long been known, but tools for high-throughput assessment of this heterogeneity have only recently become available.  The whole field of single cell RNA-Seq has seen spectacular growth, as new methods enable greater and greater numbers of cells to be profiled from a sample.  Profiling the DNA content on an individual cell basis has not been quite as much in the spotlight, but now a start-up called Mission Bio is launching a microfluidic library prep workflow, Tapestri, to enable amplicon panels to be run in single cell mode.

Friday, October 13, 2017

iGenomX Riptide Kits Promise a Sea of Data

A theme for me in my six years on Starbase has been addressing the challenge of cost-effectively sequencing many small genomes.  While sequence generation bulk prices have plummeted, all-in library construction cost has tended to stubbornly resist dramatic change.  Large genome projects don't face quite such a pinch, but if you want to sequence thousands of bacteria, viruses or molecular biology constructs, paying many-fold more for getting a sequence into the box than you're paying to move it through the box ends up being a roadblock. Illumina's Nextera approach dropped prices a bit, but not really a sea change.  Various published protocols drop  costs further via reagent dilution, but these can suffer from variable library yield and an increased dependence on precise input DNA quantitation and balancing.  Even then, the supplied barcoding reagents for Nextera handle at most 384 samples, and that is only a relatively recent expansion from 96. I previously profiled seqWell's plexWell kits, which like Nextera use a transposase scheme but with modifications to enhance tolerance to input sample concentration variation.  plexWell also enables very high numbers of libraries, which better mates projects with large numbers of small genomes to sequencers with enormous data generation capabilities.  Now comes another entrant in the mass Illumina library generation space: iGenomX, which has reformatted their chemistry from a microdroplet mode intended for linked read generation to a 96-well plate format requiring no unusual hardware.

Wednesday, October 04, 2017

PacBio's Frankenpatent on Error Correction

Well, here we go again.  Pacific Biosciences launched yet another patent lawsuit towards Oxford Nanopore at the end of September, and already the hounds are baying for me to look at the patents -- which I've foolishly established a reputation of doing. I will remind readers that, to use a construction that exasperates my son, I have no memory of these topics being covered during the time I was in law school. (said construction also works for divinity school, seminary, yeshiva, dental school, military academy, etc). 

Sunday, October 01, 2017

Dispatches from CDC AMD Day 2017

I had the singular honor and pleasure of speaking this past Monday at the Center for Disease Control and Prevention's Advanced Molecular Detection(AMD) program's annual confab in Atlanta.  Just visiting the CDC campus was already a bit magical -- along with the Kennedy Space Center and Cold Spring Harbor it's one of mythical places of human exploration to me.  But to actually stand at the podium? Wow!

I've collected below a bunch of separate mental threads, many of which probably should be expanded out to a full post in the future.

Sunday, September 24, 2017

Why Is LISP So Rare in Bioinformatics?

LISP is one of the oldest computer languages and perhaps one of the most influential of the early ones.  Some of the other well-known Eisenhower era languages -- Fortran, COBOL and ALGOL, have certainly left their mark, but LISP and derivatives such as Scheme or Common LISP certainly carries more cachet among "serious" programmers.  COBOL has always been a bit of an easy joke and Fortran tends to mark you as old-school; use of APL (once a language of mine) would mark you as dangerously reactionary.  ALGOL begat Pascal and Modula II and clearly had impact on the C syntax family of languages (including bioinformatics mainstays Python, Perl and Java) As I'll detail below, learning LISP has embarrassingly ended up stuck seemingly permanently on my future plans queue.  But that's also because life never forced the issue:  while LISP has certainly been used in bioinformatics (as covered in a review from 2016 ) , its mindshare in the community would seem to be very minimal.