Catherine Chu

TL;DR: It is demonstrated that common variants in several genes in the insulin/IGF1 pathway are associated with human lifespan.

TL;DR: This work integrates DNA sequence and copy number information to reconstruct the order of abnormalities as individual tumors evolve for 2 separate cancer types, and reframe paradigms in which TP53 mutation is required later, to bypass senescence induced by driver oncogenes.

TL;DR: This study describes an approach to performing de novo genome assembly and experimental phasing by integrating the data from Illumina short-read sequencing, 10X Genomics linked- read sequencing, and BioNano Genomics genome mapping to yield a high-quality, phased, de noVO assembled human genome.

TL;DR: It is shown that genome mapping with long, fluorescently labeled DNA molecules imaged on nanochannel arrays can be used for whole-genome structural variation detection without sequencing, and finds that individuals have many more structural variants than those published, including some with the potential of disrupting gene function or regulation.

TL;DR: The TNFAIP3 locus at 6q23, encoding A20, has been associated with multiple autoimmune diseases (AIDs), and the coding portions of the gene are sequence to identify contributing causal polymorphisms that may explain some of the observed associations.