Advances in next-generation sequencing (NGS) technologies have helped reveal causal variants for genetic diseases. In order to establish causality, it is often necessary to compare genomes of unrelated individuals with similar disease phenotypes to identify common disrupted genes. When working with cases of rare genetic disorders, finding similar individuals can be extremely difficult. We introduce a web tool, GeneYenta, which facilitates the matchmaking process, allowing clinicians to coordinate detailed comparisons for phenotypically similar cases. Importantly, the system is focused on phenotype annotation, with explicit limitations on highly confidential data that create barriers to participation. The procedure for matching of patient phenotypes, inspired by online dating services, uses an ontology-based semantic case matching algorithm with attribute weighting. We evaluate the capacity of the system using a curated reference data set and 19 clinician entered cases comparing four matching algorithms. We find that the inclusion of clinician weights can augment phenotype matching.
RESULTS: 391 singleton pregnancies conceived following autologous IVF cycles met inclusion criteria and were included in the analyses. The mean patient age was 32.8 and 88.5% were white. There was a significant association between increasing rates of first trimester pregnancy loss and decreasing mGSD-CRL (p<0.001). The combined loss rate in the entire sample was 16.6%, and the highest loss rate of 61.3% was seen with mGSD-CRL <5mm. For pregnancies that progressed beyond the first trimester, there was no association between mGSDÀCRL difference and gestational age at time of delivery or infant birth weight. CONCLUSIONS: Risk of first trimester pregnancy loss in IVF-conceived pregnancies is inversely proportional to mGSD-CRL. A similar association between mGSD-CRL and risk of preterm delivery or low birthweight was not seen. First trimester measurement of mGSD-CRL may be a useful sonographic marker of early pregnancy loss in the infertile population. References: 1. Doubilet PM, Benson CB, Bourne T, et al. Diagnostic criteria for nonviable pregnancy early in the first trimester. N Engl J Med 2013;369:1443-51. 2. Dickey RP, Olar TT, Taylor SN, et al. Relationship of small gestational sac-crown-rump length differences to abortion and abortus karyotypes.
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