Rachel G. Son
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View article: Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death Open
Correction to: Nature Medicine. Published online 19 January 2023.
View article: Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data Open
Predicted loss of function (pLoF) variants are highly deleterious and play an important role in disease biology, but many of these variants may not actually result in loss-of-function. Here we present a framework that advances interpretati…
View article: Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Open
Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the cl…
View article: Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes Open
Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the cl…
View article: Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes Open
Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier will develop the disease (termed penetrance) is unknown for virtually all of them. Additionally, th…