Yama W. L. Zheng

TL;DR: Multiplexed maternal plasma DNA sequencing analysis could be used to rule out fetal trisomy 21 among high risk pregnancies and if referrals for amniocentesis or chorionic villus sampling were based on the sequencing test results, about 98% of the invasive diagnostic procedures could be avoided.

TL;DR: This study explored the use of shotgun massively parallel sequencing of plasma DNA from cancer patients to scan a cancer genome noninvasively and showed that plasma DNA sequencing is a valuable approach for studying tumoral heterogeneity.

TL;DR: Improved detection of trisomy 13 and 18 by using a non-repeat-masked reference human genome instead of a repeat-Masked one to increase the number of aligned sequence reads for each sample and a bioinformatics approach to correct GC content bias in the sequencing data indicate that noninvasive prenatal diagnosis by maternal plasma DNA sequencing is achievable.

TL;DR: It is demonstrated that the fetal DNA fraction in maternal plasma can be rapidly measured by size analysis, even simply using microchip-based capillary electrophoresis, and the principle of size-based molecular diagnostics using plasma DNA is established.

TL;DR: Targeted sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles at genomic regions of interest and is a powerful method for measuring the proportion of fetal DNA in a maternal plasma sample.