Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Cancer Genomics and Diagnostics, and Genomic variations and chromosomal abnormalities.
The Somatic Mosaicism across Human Tissues Network
A human breast cancer-derived xenograft and organoid platform for drug discovery and precision oncology
Archetype tasks link intratumoral heterogeneity to plasticity and cancer hallmarks in small cell lung cancer
MYC Drives Temporal Evolution of Small Cell Lung Cancer Subtypes by Reprogramming Neuroendocrine Fate
Genomic analyses implicate noncoding de novo variants in congenital heart disease
Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Human-specific tandem repeat expansion and differential gene expression during primate evolution
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
GIGGLE: a search engine for large-scale integrated genome analysis
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy
Automated size selection for short cell-free DNA fragments enriches for circulating tumor DNA and improves error correction during next generation sequencing
Combating subclonal evolution of resistant cancer phenotypes
Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families
Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling
Association of<i>TMTC2</i>With Human Nonsyndromic Sensorineural Hearing Loss
A global reference for human genetic variation
An integrated map of structural variation in 2,504 human genomes
SpeedSeq: ultra-fast personal genome analysis and interpretation
Extending reference assembly models
Sequence Analysis and Characterization of Active Human<i>Alu</i>subfamilies Based on the 1000 Genomes Pilot Project
MOSAIK: A Hash-Based Algorithm for Accurate Next-Generation Sequencing Short-Read Mapping
Novel somatic and germline mutations in intracranial germ cell tumours
SubcloneSeeker: a computational framework for reconstructing tumor clone structure for cancer variant interpretation and prioritization
Tangram: a comprehensive toolbox for mobile element insertion detection
bam.iobio: a web-based, real-time, sequence alignment file inspector
Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
Targeted proteomic dissection of <i>Toxoplasma</i> cytoskeleton sub‐compartments using MORN1