After structural anomaly & neg karyo/microarray - pES: genotype-driven ➡️ phenotype-driven ➡️ reanalysis found pathogenic/likely path variants in 229/1618 (14.2%), VUS in 131/1618 (8.1%). Impacted clinical decisions in 61.5% of the prospective cohort.
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Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses https://t.co/gKwXHxBXeu
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Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses https://t.co/drbDgmEFee
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RT @CompBiolPapers: Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons l…