P3-0326 — Interim report
1.
Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation

We developed innovative approach to interpretation of exome sequencing by integrating HPO database.

COBISS.SI-ID: 3123628
2.
Clinical utility of array comparative genomic hybridisation in prenatal setting

With the systematic use of aCGH we estimated diagnostic yield

COBISS.SI-ID: 3539628
3.
Systematic review and meta-analysis of genetic association studies in idiopathic recurrent spontaneous abortion

We identified signals of association and mechanisms contributing to IRSA

4.
Specific gene expression differences in cumulus cells as potential biomarkers of pregnancy

Results of previous studies in which EFNB2, RGS2 and VCAN were proposed as biomarkers of pregnancy could not be replicated in our set of cumulus cell samples.

COBISS.SI-ID: 1995948
5.
Transcriptomic analysis and meta-analysis of human granulosa and cumulus cells

By describing novel genes like PROK2 and PNCK, expressed in GC and CC, we upgraded the existing data on human follicular biology.

COBISS.SI-ID: 38873389