Genomics and Medicine

Plenty To Do

One of the things that we’ve got going for us as technologists is that the underlying reality of biology changes pretty slowly. The human genome has been the same size for at least the last 10,000 years, and maybe as long as 300,000 years depending…

A Tale of Three Conferences

I attended three industry conferences (Bio-IT World, Rev4, and BIO) over the last four weeks. This post shares my big-picture takeaway from each conference, as well as a bit about how they stitch together. I think that I may be the only person who attended…

Sequencing depth, how much is enough?

This is the fifth in a series of high-level posts reviewing foundational concepts and technologies in genomics. The first four were: “How Many Genes Does a Person Have,” “How do Genomes Vary, Person to Person,” and “Sanger Sequencing,” and “Sequencing by Synthesis.“ The “depth” of…

Sequencing by Synthesis

This is the fourth in a series of high-level posts reviewing foundational concepts and technologies in genomics. The first three were: “How Many Genes Does a Person Have,” “How do Genomes Vary, Person to Person,” and “Sanger Sequencing.” This one is about high throughput DNA…

All In on Artificial Intelligence

More than 20 years ago, fresh out of school in the 90s, I built artificial intelligence (AI) systems for a military contractor. I trained neural nets, used natural language processing to populate decision support systems, experimented with genetic algorithms, and refined support vector machines. In…

Sanger Sequencing

This is the third post in a series reviewing basic concepts in genomics. The first one was titled “How Many Genes Does a Person Have?” and the second was “How do Genomes Vary, Person to Person?” This is a breezy summary of the Sanger method…

How do genomes vary, person to person?

This is the second post in a series where I review and explore some basic concepts and confounders in genomics. The first one was titled “How Many Genes Does a Person Have?” Until quite recently, genetic variation was described in terms of difference from a…

How many genes does a person have?

Somebody recently asked me, innocently enough, “how many genes are there in the human genome?” As one does in these situations, I answered a slightly different question: We are made up of about 20,000 unique proteins. This sufficed to move the conversation along, but I…

The Ben Franklin Awards

Once a year, bioinformatics.org gives the “Benjamin Franklin” award to a person whose practice has “advanced open access in data and methods for life sciences.” There’s no cash prize, and the recipient doesn’t even get to give a talk. It usually gets presented in the…

Should I take aspirin?

Earlier this year, I purchased Dante Labs “whole genome Z” service, which includes 30x sequencing of every base pair of my DNA, plus an additional 100x on the protein coding regions. I mostly did this for the raw data. I work in this space and…