Presenter: David Porubsky, M.Sc., Postdoctoral Fellow, Department of Algorithms for Computational Genomics, Max Planck Institute for Informatics, Saarbrücken, Germany
Title: “Strand-seq preserves contiguity of individual homologous chromosomes”
Abstract: Contiguous sequence along a single homologous chromosome is called a haplotype. Haplotype resolved genomes are important in many areas of human genetics ranging from variant-disease associations, mapping regions of loss of heterozygosity (LOH) to studying inheritance patterns in human populations. However, it remains challenging to specifically interrogate individual homologs with mainstream sequencing techniques. In contrast, single cell DNA template strand sequencing (Strand-seq) is a novel approach able to preserve contiguity of individual homologous chromosomes in a single cell. Strand-seq (Falconer et al. 2012) has the unique ability to retain directionality of sequencing reads, based on DNA template strand inheritance. This allows us to map every read to a single parental chromosome in a single cell. This feature was previously demonstrated to be a powerful way to phase individual genomes along the whole length of all homologous chromosomes (Porubsky et al. 2016). With this approach, we are able to map all meiotic recombination events in a family trio with high resolution. Importantly, we showed that Strand-seq works well in combination with other sequencing approaches like 10X and PacBio in order to provide nearly complete, genome-wide and highly accurate haplotypes (Porubsky et al. 2017). Current work explores the utility of strand sequencing to assemble more accurate and more complete genomes de novo.
1:00 pm
The Jackson Laboratory for Genomic Medicine Leo Holt Conference Room
For more information, contact: Amy Carlough at amy.carlough@jax.org