Sai Chen

The paper develops a whole genome sequencing method to detect RFC1 repeat expansions, improving diagnostic rates and simplifying the workflow for cerebellar ataxia diagnosis.

ExpansionHunter Denovo detects known and novel repeat expansions in short-read sequencing data without requiring predefined repeat catalogs.

Paragraph is a graph-based structural variant genotyper for short-read data that outperforms existing methods in accuracy across diverse samples.

ExpansionHunter is a tool for accurately genotyping short tandem repeats, particularly in complex regions with adjacent variants or imperfect repeats.

This paper introduces improved score statistics for meta-analysis in genetic association studies, enhancing power in unbalanced settings and multi-ethnic samples.

The paper develops a method to handle missing data in genetic meta-analysis, identifying novel low-frequency variants in nicotine dependence genes with improved accuracy.

The paper develops methods to analyze multi-allelic variants in large sequence datasets, showing improved power and unbiased estimates in association tests.