Chief Scientific Officer, Pacific Biosciences
BIOGRAPHY
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.
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