Publications by authors named "Saiying Yan"
Article Synopsis
- The study introduces CNVseq-AOH, a new method that detects absence of heterozygosity (AOH) using ultra-low coverage whole genome sequencing (LP-WGS), which is lower than typical methods, by integrating population-based data and advanced algorithms like recurrent neural networks (RNN).
- The CNVseq-AOH method demonstrated high accuracy in identifying AOH regions, achieving concordance rates of 96.23% for autosomes and discovering additional AOHs when tested on genomic data from 409 samples from the 1000 Genomes Project.
- In clinical trials, CNVseq-AOH successfully identified all known AOH regions in six patients, showcasing its potential as a
Background: With advances in massive parallel sequencing (MPS) technology, whole-genome sequencing (WGS) has gradually evolved into the first-tier diagnostic test for genetic disorders. However, deployment practice and pipeline testing for clinical WGS are lacking.
Methods: In this study, we introduced a whole WGS pipeline for genetic disorders, which included the entire process from obtaining a sample to clinical reporting.
Article Synopsis
- - Whole genome sequencing (WGS) is being tested as a prenatal diagnostic tool for fetal structural anomalies, compared to chromosomal microarray (CMA) and whole exome sequencing (WES), in a study involving 111 fetuses.
- - WGS successfully identified all genetic variants found by CMA plus WES and revealed additional significant findings, achieving a diagnostic rate of 19.8%.
- - WGS required less DNA input and provided faster results (average 18 days) than the combination of CMA and WES (average 31 days), making it a promising alternative for prenatal genetic analysis.
Osteoarthritis (OA) is a common type of disease affecting the joints that results from the breakdown of joint cartilage and the underlying bone; currently, its pathogenesis is still unclear. The aim of the present study was to identify key mRNAs and miRNAs involved in the pathogenesis and progression of OA using microarray analysis. The gene expression profile of GSE27492 was downloaded from the Gene Expressed Omnibus database, and included 49 arthritic mouse ankle samples collected at 6 time points (0, 1, 3, 7, 12 and 18 days) following the induction of arthritis via serum transfer.
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