Sequencing technologies have enabled the investigation of whole genomes of many individuals in parallel. Studies have shown that the joint consideration of multiple rare variants may explain a relevant proportion of the genetic basis for disease so that grouping of rare variants, termed collapsing, can enrich the association signal. Following this assumption, we investigate the...
Sequencing technologies have enabled the investigation of whole genomes of many individuals in parallel. Studies have shown that the joint consideration of multiple rare variants may explain a relevant proportion of the genetic basis for disease so that grouping of rare variants, termed collapsing, can enrich the association signal. Following this assumption, we investigate the...
Novel technologies allow sequencing of whole genomes and are considered as an emerging approach for the identification of rare disease-associated variants. Recent studies have shown that multiple rare variants can explain a particular proportion of the genetic basis for disease. Following this assumption, we compare five collapsing approaches to test for groupwise association...
Novel technologies allow sequencing of whole genomes and are considered as an emerging approach for the identification of rare disease-associated variants. Recent studies have shown that multiple rare variants can explain a particular proportion of the genetic basis for disease. Following this assumption, we compare five collapsing approaches to test for groupwise association...
support, for which we are most thankful. Author Contributions Conceptualization: Maike Wolters. Formal analysis: Carmen Dering, Claudia BoÈrnhorst. Investigation: Alfonso Siani, Paola Russo, Patrizia
Human genetics and immune responses are considered to critically influence the outcome of malaria infections including life-threatening syndromes caused by Plasmodium falciparum. An important role in immune regulation is assigned to the apoptosis-signaling cell surface receptor CD95 (Fas, APO-1), encoded by the gene FAS. Here, a candidate-gene association study including variant...
