Main Publications

• From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software.
  PubMed (PMID: 22965131) | 2013 | Nucleic acids research
• Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome.
  PubMed (PMID: 20084402) | 2010 | Pediatric nephrology
• SNP discovery performance of two second-generation sequencing platforms in the NOD2 gene region.
  PubMed (PMID: 20506538) | 2010 | Human mutation