Clarence Lee

TL;DR: The ability of circulating tumor DNA (ctDNA) to detect tumors in 640 patients with various cancer types was evaluated and suggested that ctDNA is a broadly applicable, sensitive, and specific biomarker that can be used for a variety of clinical and research purposes.

TL;DR: A single-cell digital gene expression profiling assay with only a single mouse blastomere is described, which detected the expression of 75% more genes than microarray techniques and identified 1,753 previously unknown splice junctions called by at least 5 reads.

TL;DR: A massive-scale RNA sequencing protocol, short quantitative random RNA libraries or SQRL, is developed, highlighting how SQRL can be used to characterize transcriptome content and dynamics in a quantitative and reproducible manner, and suggesting that the understanding of transcriptional complexity is far from complete.

TL;DR: Using massively parallel sequencing technology, a small-cell lung cancer cell line, NCI-H209, is sequenced to explore the mutational burden associated with tobacco smoking and identifies a tandem duplication that duplicates exons 3–8 of CHD7 in frame, and another two lines carrying PVT1–CHD7 fusion genes, indicating that ChD7 may be recurrently rearranged in this disease.

TL;DR: This study provides a proof of concept that it should be possible to introduce preconception carrier screening for many recessive pediatric disease mutations as long as the disease genes are known and predicts that the screening test could be made faster and more cost-effective with the advent of microdroplet polymerase chain reaction and third-generation sequencing technologies.