Yaping Yang

TL;DR: In this article, the authors designed and implemented protocols for the study of cases for which a plausible molecular diagnosis was not achieved in a clinical genomics diagnostic laboratory (i.e., unsolved clinical exomes).

TL;DR: A non-invasive prenatal test utilizing cell-free DNA simultaneously detects mutations in 30 genes frequently associated with dominant monogenic diseases and demonstrates high accuracy in human clinical samples.

TL;DR: An efficient genomics pipeline in which clinical sequencing in a diagnostic laboratory is followed by the detailed reanalysis of unsolved cases in a research environment, supplemented with WES data from additional family members, and subject to adjuvant bioinformatics analyses including relaxed variant filtering parameters in informatics pipelines, can enhance the molecular diagnostic yield and provide mechanistic insights into Mendelian disorders.

TL;DR: The goal was to develop methods for detection of chromosomal and subchromosomal abnormalities in fetal cells in the mother's circulation at 10–16 weeks' gestation using analysis by array comparative genomic hybridization (CGH) and/or next‐generation sequencing (NGS).

TL;DR: The comprehensive assay methodologies and analytical algorithms can be used to expand the current test to include many more dominant diseases, and the researchers recommend systematic studies to establish a more precise advanced paternal age cutoff for genetic counseling and potential high-risk screening.