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We have done genotyping from targeted DNA sequencing of 600 related human samples. The targeted regions are mainly the exons of several hundred imprinted genes and the total size of the panel is 4Mb. About 200 samples were in trios and we were able to phase their variants. We are wondering if we could use these genotyping and phasing data to impute the SNPs beyond the targeted regions, e.g. several Kb or Mb upstream/downstream of the genes we targeted in the panel. All the sequenced samples came from a small local population so it's expected that they share many common haplotypes. Will this help imputation? If it's feasible, which pipeline/tools should be used? Thanks.
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Many organizations study rare diseases, but few have a mission as impactful as Rady Children’s Institute for Genomic Medicine (RCIGM). “We are all about changing outcomes for children,” explained Dr. Stephen Kingsmore, President and CEO of the group. The institute’s initial goal was to provide rapid diagnoses for critically ill children and shorten their diagnostic odyssey, a term used to describe the long and arduous process it takes patients to obtain an accurate...12-16-2024, 07:57 AM -
Innovations in next-generation sequencing technologies and techniques are driving more precise and comprehensive exploration of complex biological systems. Current advancements include improved accessibility for long-read sequencing and significant progress in single-cell and 3D genomics. This article explores some of the most impactful developments in the field over the past year.
Long-Read Sequencing
Long-read sequencing has seen remarkable advancements,...12-02-2024, 01:49 PM