Zihua Wang

PAXIP1-PAGR1 directs cohesin recruitment during break-induced telomere repair

The paper identifies PAXIP1-PAGR1 as essential for cohesin recruitment during break-induced telomere repair and shows their role in ALT-mediated telomere maintenance.

Accurate measurement of microsatellite length by disrupting its tandem repeat structure

This paper introduces a method to accurately measure microsatellite lengths by disrupting their tandem repeat structure, achieving error rates below one in a million.

Quantification of autism recurrence risk by direct assessment of paternal sperm mosaicism

The paper quantifies autism recurrence risk by detecting paternal sperm mosaicism through single molecule genotyping and whole genome sequencing.

Mutational sequencing for accurate count and long-range assembly

The paper introduces muSeq, a protocol that uses mutational sequencing to improve count accuracy and long-range assembly from short-read data.

De novo indels within introns contribute to ASD incidence

The paper identifies de novo intronic indels in autism target genes from simplex families and finds they contribute to at least 10% of simplex autism.

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.

MUMdex: MUM-based structural variation detection

MUMdex detects structural variations by analyzing maximal unique matches, demonstrating accuracy in simulated and real human genome data.

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.