Yiyang Wu

Indel variant analysis of short-read sequencing data with Scalpel

This paper introduces Scalpel, an open-source tool for accurate indel detection from short-read sequencing data, and demonstrates its application in various analysis modes.

A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

The paper identifies a maternally inherited TAF1 variant in two brothers with severe intellectual disability and distinctive facial features, linking it to a new syndrome.

Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms

This paper reports whole genome sequencing of a family with PWS, HH, and dysautonomia-like symptoms, identifying genetic variants and highlighting the importance of standardized phenotypic and genomic data.

Genome Wide Variant Analysis of Simplex Autism Families with an Integrative Clinical-Bioinformatics Pipeline

This study uses an integrative clinical-bioinformatics pipeline to analyze genome-wide variants in simplex autism families, identifying candidate variants associated with ASD.

Reducing INDEL calling errors in whole-genome and exome sequencing data

This study identifies sources of INDEL calling errors in sequencing data and shows that whole-genome sequencing (WGS) outperforms whole-exome sequencing (WES) in accuracy and sensitivity for detecting INDELs.

Accurate detection of de novo and transmitted INDELs within exome-capture data using micro-assembly

Scalpel detects de novo and transmitted INDELs in exome data with high specificity and sensitivity, outperforming existing tools in challenging repeat regions and identifying new autism-related genes.