Skip to main content
Premium Trial:

Request an Annual Quote

Sequencing Takes a Clinical Bent at AGBT

The first talks of the 13th annual Advances in Genome Biology and Technology meeting kicked off yesterday in Marco Island, Fla., with more than 800 people making the pilgrimage for the event. At a meeting known as the hub of the next-gen sequencing field, it was notable that this year's sessions began not with a technology focus, but a medical one. The day opened with Lynn Jorde's keynote, in which he described the VAAST genome interpretation software that has been used to diagnose rare diseases, such as Miller syndrome, and to identify a new one in children, called Ogden syndrome. In demonstrating that mutation rates are higher in males than in females, Jorde got a laugh from the audience when he said, "We males are responsible for most of the havoc in the human genome."

Heidi Rehm continued the medical theme with a talk about bringing sequencing into a clinical environment in a robust way. Her team has been offering gene panel tests — first on arrays, and now moving to sequencing — that have increased successful diagnoses by including variants that most doctors would not necessarily test for. Later, Darrell Dinwiddie from Children's Mercy Hospital in Kansas City, Mo., spoke about the use of a 600-gene panel in pediatric testing, mentioning in particular that adhering to medical guidelines about not testing children for carrier status or adult-onset diseases is a challenge when it comes to gathering large-scale genomic data. In response to the idea that it will take a while for sequencing to have significant clinical impact, Dinwiddie said, "With Mendelian genomic medicine, we're already there."

At MassGenomics, Dan Koboldt adds that the evening's theme during a session on medical genomics "seemed to be 'We're not sure what to make of this.' It didn't matter if the phenotype was super-longevity (Devine), autism (Edwards), or an undiagnosed neurological condition in monozygotic twins (Margulies)," he writes. "The technologies were advanced, the analyses were [usually] thorough, but there just aren't any definitive novel findings."

Attendees have also taken to Twitter, using the hashtag #AGBT to discuss the goings-on at Marco Island. Nick Loman at Pathogens: Genes and Genomes is keeping track of the popular tweets from each day, which include one from @djschlesinger saying that JGI is using PacBio reads to close the gaps in its Illumina assemblies, and one from @omespeak noting that GnuBio and LaserGen have announced new machines, and that Oxford Nanopore is the agenda for today.

Meanwhile, the #notAGBT feed is providing some comic relief from the fast-paced meeting.

The Scan

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.

Fragile X Syndrome Mutations Found With Comprehensive Testing Method

Researchers in Clinical Chemistry found fragile X syndrome expansions and other FMR1 mutations with ties to the intellectual disability condition using a long-range PCR and long-read sequencing approach.

Team Presents Strategy for Speedy Species Detection in Metagenomic Sequence Data

A computational approach presented in PLOS Computational Biology produced fewer false-positive species identifications in simulated and authentic metagenomic sequences.

Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetically predicted high blood pressure risk is also associated with increased cardiovascular disease risk, a new JAMA Cardiology study says.