Publications by authors named "Pierrick Wainschtein"
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Synopsis of recent research by authors named "Pierrick Wainschtein"
Recent research by Pierrick Wainschtein emphasizes the significant role of rare penetrant mutations in contributing to severe risks of common diseases, showing that these mutations have approximately 10-fold larger effects compared to more common variants.
His work, based on an analysis of 454,712 exomes, highlights the greater clinical utility of a unified genetic risk model for identifying individuals at high risk for early-onset diseases, particularly across diverse global populations.
Additionally, his investigations into complex trait heritability using whole-genome sequences indicate that a substantial portion of heritability, often as high as two-thirds, may remain unexplained by common SNPs, warranting further exploration into rare variants' contributions.
