Óscar Puig

The paper develops an NGS panel to identify pathogenic LDLR mutations in Icelandic FH families and population-based samples with high cholesterol.

This study develops a comprehensive NGS panel for genetic testing of infertility, showing high accuracy and cost savings compared to standard methods.

The paper evaluates the reliability of self-reported ethnicity versus genetic ancestry in carrier screening and finds discrepancies that affect carrier risk estimation.

This paper improves SMN1 and SMN2 copy number determination using ddPCR by applying extreme value theory for threshold estimation, achieving higher accuracy than QuantaSoft on challenging samples.