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SOLVE-RD aims to improve the diagnosis and treatment of rare diseases, which in total affect millions of Europeans. The program is applying novel diagnostic tools to around 19,000 cases unsolved by prior short-read exome sequencing. PacBio long-read genome sequencing have shown that each human genome has upwards of 20,000 structural variants (differences ≥50 bp), which affect more base pairs than single nucleotide variants and small insertions and deletions together. Short-read sequencing fails to detect most of these structural variants, which often lie in repetitive regions of the genome or are larger than short reads can span.

SOLVE-RD Funded to Improve Diagnosis of Rare Disease with New Tools Including Long-Read Sequencing - PacBio PacBio is the leader in long-read sequencing, providing high-quality genomes to advance scientific discovery. Learn how SMRT Sequencing powers genomic insights in humans, plants, animals and microbes.

The genome-sequencing project of desert Dingo named Sandy won last year's SMRT Grant program. PacBio long read sequencing was used for de novo sequencing of the genome and the resulting reads, including more than 150 billion bases of raw sequence. With bioinformatics and Scaffolding technologies, the dingo genome resulted in 2.4 billion bases long and spans 98 percent of the CanFam3.1 domestic dog reference genome, which was used for preliminary analyses of the new dingo sequence.

Dingo Genome Progress Presented at PAG An Australian team used Pacific Biosciences long reads, 10X Genomics linked reads, and Bionano Genomics mapping to assemble a desert dingo genome de novo.