Comparing CNVsExome sequencing (@Exome_seq) can be used to generate CNV maps bit the data are noisy compared to WGS or SNP-arrays. In this post I’ll describe a novel workflow to get high-quality CNV from an exome-seq pipeline and show some very new data…Image reproduced and […]

A recent paper from the MD Anderson’s Department of Hematopathology reports on their use of the AmpliSeq for a 409 gene panel on Ion Proton: Clinical massively parallel next-generation sequencing analysis of 409 cancer-related genes for mutations and copy number variations in solid tumours. I’m […]

GenomeWeb covered a recent paper from Stuart Kim’s group at Stanford University: Whole-Genome Sequencing of the World’s Oldest People. Unfortunately they did not find any longevity genes, and Kim was quoted saying “We were pretty disappointed.”There is lots of suggestion that longevity has a genetic […]

In the Summer I posted a Christmas letter to Santa. He’s already delivered number 2 (cheaper RNA-seq) and 3 (longer RNA-seq reads via PE250), and number 4 might be coming soon (exomes at PE125). I’d also asked that he not deliver HiSeq X Ten as […]

A recent circulating tumour DNA (ctDNA) paper describes a comparison of ctDNA to CTC’s with respect to TP53 mutations in 40 triple negative breast cancer patients. See: Circulating tumour DNA and circulating tumour cells in metastatic triple negative breast cancer patients in the International Journal […]

The 250bp paired-end HiSeq rapid run kits are almost here! Expect to get 150M reads per lane or more on the current rapid flowcells. What will you do with 150M 500bp OPES?No word on pricing yet, and I could not find any PE250 data on […]

I was chatting with a colleague at work who’d asked me if I know anywhere they could get their genome or exome sequenced. My genome has been sat in the freezer for over five years wanting to go onto a flow cell, but I’ve never […]

I’ve been inspired to create three Twitterbots for NGS papers on @RNA-seq, @ChIP-seq and @Exome-seq by Casey Bergman at the University of Manchester. I’d not come across Caseys twitter account (I don’t actually use Twitter that much) or his lab website and blog; but I […]

Registration is open! The registration process for AGBT has been overhauled in the last few years; yes there’s still a lot of people who don’t get in, but it seems to be pretty fair. Countdown WidgetsI hope to see you there. I’m going to be blogging […]