Long reads application in studies of human disease

Evolving current and creating emerging technologies toward multifaceted, next-level DNA sequencing and clinically relevant applications.

Robert is a leading expert in sequencing platforms and a pioneer in new approaches for single molecule and single cell assay development. Dr. Sebra has published more than 50 papers in top tier journals, including Science, Cell, Nature, NEJM, and Cancer Discovery, and his work has led to multiple issued patents.

Jason Underwood

Dept. of Genome Science

University of Washington

Robert Sebra

ICAHN School of Medicine

Mount Sinai, NY

Graham Etherington

Earlham Institute, UK

Jason Underwood is a molecular biologist working at the interface of RNA biology and genomics. After studying neuron-specific alternative splicing as a graduate student, Dr. Underwood cultivated his interest in RNA-seq method development first with short reads as postdoc and then with PacBio long reads. As a member of PacBio's R&D team, he developed the full length cDNA sequencing method now known as Iso-Seq, in order to read full transcripts and avoid the flaws of assembly. Currently, he is a principal scientist for PacBio working in collaboration with Evan Eichler's lab at the University of Washington to study the human-specific differences that distinguish our genomes and transcriptomes from those of our nearest phylogenetic relatives, the great apes.

Lessons from primate genome assemblies

Roadkill, polecats and long-read sequencing

I use a number of whole genome sequencing approaches to sequence various vertebrates in order to answer questions related to conservation, population and evolutionary genomics, hybridisation, domestication and species diversity.
I also develop bespoke software to help me and others handle and analyse large sequence datasets. My responsibilities also extend to bioinformatics training, outreach and CITES co-ordinator.
My current research includes looking at Mustelid (polecats and ferrets) diversity and I'm heavily involved in the Koala Genome Sequencing Consortium. I also have a great interest in avian genomics which reflects my passion for birding.


NGI Sweden / SciLifeLab

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