A unified method for detecting secondary trait associations with rare variants: application to sequence data.

Apesar da Política Nacional de Atenção Integral às Pessoas com Doenças Raras ter sido promulgada em 2014, os pacientes ainda têm dificuldade em garantir acesso a tratamento

Although the idea of pooling minor alleles in association tests with rare variants may still hold sway in the genetics community, it is worth noting that some new association tests

The Type I error rate of the Bayesian hierarchical generalized linear model (BhGLM) method was calculated using a threshold of 3.84 for the Wald test statistic... One reviewer brought

Based on the predicted penetrance and the frequencies, a variant in PLXNA4 proved to be the best candidate and PLXNA4 was screened for additional variants in 862 PD cases and

After finding potential regions through autozygosity mapping we identified two novel rare variants to cause hearing loss in this study (GIPC3 p.H170N and ZNF57 p.T443M).. Both

O objetivo deste relato foi descrever o trauma como causa de aborto bovino leiteiro na região norte do Paraná, assim como a ocorrência de uma vértebra

Here, we present a series of methods for identification of genetic variants and genotypes with clinical associations, phasing genetic data and using Mendelian inheritance for

COL8A2 spans a continuum of effect sizes and allele frequencies, from common variants affecting corneal thickness in normal populations to rare exonic variants causing