1807109 - dbGaP

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Analysis	Description
Phenotype Risk Scores Identify Patients With Unrecognized Mendelian Disease Patterns Phenotype Risk Score Study of Rare Variants Browse genome for pha004655.1	We conducted our analysis on a cohort of 21,701 individuals genotyped on the HumanExome BeadChip. We created phenotypes using aggregated billing codes to calculate Phenotype Risk Scores (PheRS). A PheRS is a continuous variable designed to measure the phenotypic overlap of an individual with a Mendelian disease. We only tested PheRS for variants in genes known to cause the Mendelian disease (e.g. We only tested the PheRS for cystic fibrosis in CFTR variants). We restricted our analysis to rare variants (MAF<1%). We tested for association using linear regression assuming a dominant genetic model and controlling for age and sex.

Analysis

Description

Phenotype Risk Scores Identify Patients With Unrecognized Mendelian Disease Patterns

Phenotype Risk Score Study of Rare Variants

We conducted our analysis on a cohort of 21,701 individuals genotyped on the HumanExome BeadChip. We created phenotypes using aggregated billing codes to calculate Phenotype Risk Scores (PheRS). A PheRS is a continuous variable designed to measure the phenotypic overlap of an individual with a Mendelian disease. We only tested PheRS for variants in genes known to cause the Mendelian disease (e.g. We only tested the PheRS for cystic fibrosis in CFTR variants). We restricted our analysis to rare variants (MAF<1%). We tested for association using linear regression assuming a dominant genetic model and controlling for age and sex.

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