Giuseppe Narzisi

Associate Director, Computational Biology

NYGC Publications

• Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population
• Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes
• Benchmarking challenging small variants with linked and long reads
• High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
• Benchmarking challenging small variants with linked and long reads
• Curated variation benchmarks for challenging medically relevant autosomal genes
• Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study
• Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
• The genomic basis of evolutionary differentiation among honey bees
• Feather Gene Expression Elucidates the Developmental Basis of Plumage Iridescence in African Starlings
• Somatic variant analysis of linked-reads sequencing data with Lancet
• A crowdsourced set of curated structural variants for the human genome
• YES1 amplification is a mechanism of acquired resistance to EGFR inhibitors identified by transposon mutagenesis and clinical genomics.
• Genome-wide somatic variant calling using localized colored de Bruijn graphs
• Detection of long repeat expansions from PCR-free whole-genome sequence data
• Indel variant analysis of short-read sequencing data with Scalpel
• The challenge of small-scale repeats for indel discovery
• Accurate de novo and transmitted indel detection in exome-capture data using microassembly.

Software

• Lancet