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Recent advances in sequencing technology have presented both opportunities and challenges, with limited statistical power to detect a single causal rare variant with practical sample sizes. To overcome this, the contributors to Group 1 of Genetic Analysis Workshop 17 sought to develop methods to detect the combined signal of multiple causal rare variants in a biologically meaningful way. The contributors...
Current evidence suggests that the genetic risk of breast cancer may be caused primarily by rare variants. However, while classification of protein‐truncating mutations as deleterious is relatively straightforward, distinguishing as deleterious or neutral the large number of rare missense variants is a difficult on‐going task. In this article, we present one approach to this problem, hierarchical...
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