Projects
The Mosaic Lab tackles questions related to variation in human reproductive and perinatal traits. In particular, we are interested in knowing how variation in our DNA translate into variation in reproductive and perinatal outcomes. We combine large-scale genetic datasets with publicly available functional data in relevant cell types to understand the biological mechanisms behind such variation and inform laboratory follow-up. In sharp contrast with most traits, reproductive and pregnancy outcomes are largely shaped by two distinct, but correlated, genomes, the maternal and the fetal. While this complicates downstream analyses and interpretations, it makes research in this field particularly exciting and unique. In our group we have designed robust pipelines to tease out maternal and fetal effects and assess their interplay on multiple outcomes. More broadly, we are also interested in understanding other, non-genetic, sources of variation underlying traits related to reproductive and perinatal health.
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Less than half of all conceptions survive until birth. Here we will study how genetic variation in the fetus affects the risk of miscarriage beyond aneuploidies.
We use large pedigrees in combination with classic epidemiological study designs (within-family, postbirth, etc) to tease appart shared and non-shared sources of variation in human reproduction and pregnancy traits.
The study of reproductive and pregnancy outcomes is tighly linked to the hypothesis of the conflicts of pregnancy. We use large-scale pedigrees and genetic data to provide evidence in this area.
Here we conducted a genome-wide association study of neonatal jaundice and made all results readily available before paper acceptance.
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We develop predictive tools for different traits and make these tools openly available to the community.
We are co-chairs of the NCWRH.
We are member of the EGG and EAGLE Consortia.