Sara Carvalho

Segregation analysis of 17,425 population-based breast cancer families: evidence for genetic susceptibility and risk prediction

This study analyzes 17,425 breast cancer families to assess genetic factors contributing to familial risk, finding a recessive risk component and polygenic factors explain residual familial variance.

Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk.

The paper uses whole-exome sequencing data to identify novel breast cancer susceptibility genes and assess the contribution of coding variants to breast cancer risk.

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

The paper assesses breast cancer risks linked to rare missense variants in five susceptibility genes using logistic and mixture models, finding varying risk contributions across genes.

Partial selfing eliminates inbreeding depression while maintaining genetic diversity

This study shows that partial selfing reduces inbreeding depression while preserving genetic diversity in C. elegans by purging deleterious alleles and maintaining adaptive variation.

Complex heterochrony underlies the evolution of hermaphrodite self-fertility and sex allocation in experimental C. elegans populations

This study shows that complex developmental timing changes (heterochrony) underlie the evolution of self-fertility and sex allocation in experimental C. elegans populations.