New approaches to generate high-quality representations of human genomes and transcriptomes are now becoming available. In contrast to short-read “Whole-Genome” re-sequencing methods, these de novo genome assemblies capture genomes more completely, and provide resolution of genetic variation of a much larger size and type range, including structural variants and phased allelic variation. Similarly in RNA-seq, full-length mRNA sequencing directly allows for more comprehensive views of transcript isoforms, which are commonly very difficult to reconstruct from splice-junction spanning short reads.

Learning Objectives:

• recognize the limitations associated with short-read approaches for high-quality de novo genome assemblies and transcriptome architectures
• learn about new, long-read sequencing approaches for more complete, reference-free genomes and transcriptomes