The tyranny of large numbers: mutations in breast cancer

What’s in a number? Small numbers are roguish capsules of triple meaning. The number 7 is the date you were married; it’s the exact number of teaspoons of sugar in a halwa recipe your mom sent you; it’s the age of your eldest son on his next birthday. As we get older, we become acquainted … Continue reading “The tyranny of large numbers: mutations in breast cancer”

Accuracy puts the there in speed: DNA-Seq stuff!

In certain circles, asking why speed is good is tantamount to heresy. I once submitted a paper with the phrase “computational performance is not an explicit goal of this work” in the abstract. It was rejected; in his explanatory note, the reviewer had said that my approach was “unlikely to yield great speedups,” and that … Continue reading “Accuracy puts the there in speed: DNA-Seq stuff!”

It’s pronounced three dot oh

Getting things to “just work” is hard. Getting them to just work and be good is harder. With StrandNGS 3.0, we believe we’ve done both. A quarter year’s labour of love, three dot oh feels different because it is different; it feels good because it is. RNA alignment is faster. If you’re using transcriptome + genome alignment, you … Continue reading “It’s pronounced three dot oh”

Rare diseases: or, what happens when backups fail

Ploidy is a funny old Greek word for a modern, almost modish concept: data backups. Ploidy is the number of copies of an organism’s DNA. Certain kinds of algae, for instance, don’t buy into backups; they’re haploid, and contain only a single copy of DNA. Plants, on the other hand, are polyploidal; paranoiacs of the … Continue reading “Rare diseases: or, what happens when backups fail”

The clinical workflow, retinoblastoma and split alignment

    Retinoblastoma is an “oma” named for its surface effect, its “presentation”:  it’s a cancer that attacks the eye. Worse, because 80% of retinoblastoma diagnoses occur before the age of 3, it’s a cancer that attacks the eyes—almost exclusively—of little children. Retinoblastoma is a “good cancer”: 90% of all RB cases survive into adulthood. … Continue reading “The clinical workflow, retinoblastoma and split alignment”