Oxford Nanopore MinION Updates: Poretools, Improved Chemistry, SNP Calling, Scaling up Nanopore Sequencing

Oxford Nanopore Updates: Poretools, New Chemistry, 2-Directional Read, Read Quality

After a few quite weeks on the news from Oxford Nanopore front, this week had a flurry of activities on Oxford Nanopore. Just like before, NIck Loman was behind person behind all interesting updates on @nanopore. If you missed all the action. Here is the summary of recent nanopore activities. First, Nick Loman and Aaron [...]

Personal Allele-Specific Transcriptomics by PacBio Long Reads

Allele Specific Expression

Just a few weeks ago Mike Snyder’s team at Stanford published an interesting paper on PNAS. Snyder’s team is again at using PacBio long reads to understand and characterize human transcriptome. Defining a personal, allele-specific, and single-molecule long-read transcriptome by Hagen Tilgnera, Fabian Gruberta, Donald Sharon, and Michael P. Snyder In this paper, Tilgner et [...]

Ted Stanley’s $650 Million Donation to Broad Institute : Link Roundup

The Broad Institute today announced that it will be receiving $650 million from philanthropist Ted Stanley with the goal to study psychiatric disorders and bring new treatments.   The announcement coincided with a publication Nature on schizophrenia genome-wide association study with huge sample sizes 36,989 cases and 113,075 controls, which identified 108 genetic loci associated with [...]

Illumina Acquires Myraqa, a Regulatory Firm

Illumina Acquires Myraqa: IVD regulatory firm

Illumina announced that it acquired Myraqa, a Redwood Shores, California based regulatory firm specializing in In Vitro Diagnostics and companion diagnostics. Myraqa was founded in 1998 by Mya Thomae, RAC, CQA. Myraqa was formerly known as Mya Thomae Consulting. Announcing the acquisition, Illumina said the acquisition will bolster Illumina’s capabilities for clinical readiness and help [...]

Platypus: A New Variant Caller that Integrates Mapping, Assembly and Haplotype-based approaches

Playtpus: A New Multi-sample Variant Caller that Integrates Mapping, Assembly and Haplotype-based approaches

Nature Genetics just published a really interesting paper from Gerton Lunter Group  (and McVean group) from University of Oxford. It is about a variant calling approach that integrates ideas from mapping, assembly, and haplotypes. I can hear you saying “Yeah. right. Yet another variant caller?”. Believe me, this one looks different. The paper looks really [...]