The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Abstract There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for “the needle in a haystack” to uncover rare, novel causes of disease within the genome. Impeding the pace of …

The NIH BD2K center for big data in translational genomics

Abstract The world’s genomics data will never be stored in a single repository – rather, it will be distributed among many sites in many countries. No one site will have enough data to explain genotype to phenotype relationships in rare diseases; therefore, sites must share …

minion sequencer next to a phone

DNA sequencer the size of a mobile phone

By Branwyn Wagman, UC Santa Cruz Genomics Institute Investigators at the UC Santa Cruz Genomics Institute have optimized performance of a mobile-phone-sized MinIONTM DNA sequencer, marketed by Oxford Nanopore. Their work was reported in Nature Methods on February 16, 2015. The MinION device reads individual …

Improved data analysis for the MinION nanopore sequencer

Abstract Speed, single-base sensitivity and long read lengths make nanopores a promising technology for high-throughput sequencing. We evaluated and optimized the performance of the MinION nanopore sequencer using M13 genomic DNA and used expectation maximization to obtain robust maximum-likelihood estimates for insertion, deletion and substitution …