Han Fang

The paper uses long-read sequencing to analyze structural variations in the SK-BR-3 breast cancer cell line, revealing complex rearrangements and novel gene fusions.

The paper introduces open-source tools for detecting structural variations using long-read sequencing, achieving high sensitivity and precision in complex regions and identifying novel variants in human genomes.

Scikit-ribo provides accurate A-site prediction and translation efficiency estimation from Riboseq and RNAseq data, correcting biases and improving TE estimation for over 2000 genes in S. cerevisiae.

HadoopCNV detects copy number variants from WGS data using dynamic programming and allelic depth, outperforming existing tools in accuracy and scalability.

GenomeScope estimates genome size, heterozygosity, and repeat content from short reads to aid in genome analysis parameter selection.

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.

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.

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.

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

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.

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.