Nicola J. Camp

Genetic Variants Associated with Placental Abnormalities in Stillbirths

The paper identifies genetic variants associated with placental abnormalities in stillbirths by analyzing exome sequencing data from placental and fetal samples.

PRANA: A Deep Learning Method for Adapting Polygenic Risk Scores to Diverse Ethnic Groups

PRANA adapts polygenic risk scores to non-European populations, improving predictive accuracy by 5%-20% in South Asian, East Asian, and Ashkenazi Jewish populations.

When Two plus Four Does Not Equal Six: Combining Computational and Functional Evidence to Classify BRCA1 Key Domain Missense Substitutions.

The paper evaluates the performance of functional assays and computational tools in classifying BRCA1 missense variants using a Bayesian framework and empirical validation.

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction

This study examines differences in polygenic risk score distributions across European populations and shows how country-specific calibration can improve breast cancer risk prediction.

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.

Rare protein coding variants implicate genes involved in risk of suicide death

The paper identifies five rare SNPs associated with suicide death using genetic data from the USGRS and controls, highlighting their potential role in suicide risk and related biological processes.

Assessment of Polygenic Architecture and Risk Prediction based on Common Variants Across Fourteen Cancers

This study assesses polygenicity and risk prediction using common variants across 14 cancers, finding varying numbers of susceptibility variants and risk score effectiveness.

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

This study fine-maps 150 breast cancer risk regions to identify 178 high confidence target genes using genomic and functional annotations.

Genomewide significant regions in 43 Utah high-risk families implicate multiple genes involved in risk for completed suicide

The paper identifies 207 genes associated with completed suicide using genomic data from 43 high-risk Utah families, finding four significant variants linked to suicide risk.

Reparameterization of PAM50 expression identifies novel breast tumor dimensions and leads to discovery of a breast cancer susceptibility locus at 12q15

The paper reparameterizes PAM50 gene expression into tumor dimensions and identifies a breast cancer susceptibility locus at 12q15 through genetic analysis of high-risk pedigrees.

Novel pedigree analysis implicates DNA repair and chromatin remodeling in Multiple Myeloma risk

This paper introduces a new pedigree analysis method to identify risk variants for complex diseases, applying it to Multiple Myeloma and finding two genes associated with DNA repair and chromatin remodeling.

High-risk Autism Spectrum Disorder Utah pedigrees: a novel Shared Genomic Segments analysis.

The paper uses a new pedigree analysis method to identify shared genomic segments in high-risk ASD families, finding one genome-wide significant segment and several suggestive regions.