Illustrating, Quantifying, and Correcting for Bias in Post-hoc Analysis of Gene-Based Rare Variant Tests of Association

Evaluating basic approaches to post-hoc analysis for commonly used, gene-based rare variant tests of association

Association between bovine lactoferrin gene variant and somatic cell count in milk based on EcoRI restriction site

Mastitis is one of the most serious and costly diseases affecting dairy cattle production. In the present study, effects of a lactoferrin gene polymorphism (intron 6) on milk somatic cell count (SCC) and subclinical mastitis was investigated in 121 Holstein dairy cattle. Two alleles of A and B and two genotypes of AA and AB were found in an EcoRI recognized single nucleotide polymorphism in int...

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...

P-215: Discovery of A Novel APA Variant of A Human Potential Gene Based on Expressed Sequenced Tags Analysis

Background: Expressed sequence tags (ESTs) are sequences of cDNA fragments prepared from different tissue sources. There are over one million of these sequences in the publicly available database, and these sequences are believed to represent more than half of all human genes. The ESTs belong to different cDNA libraries, was prepared from one particular cell type, organ, or tumor. Therefore, th...

Hemoglobin Daneshgah-Tehran (HBA1:c.218A>G p.His72Arg): a Rare α1-Globin Variant from Iran

There are more than 400 different variations on α-globin protein, and most of them are not associated with noticeable clinical manifestation. Hemoglobin (Hb) is an oxygen-transporting protein and Hb Daneshgah- Tehran is an α-globin variant that for the first time was reported from Iran in a case with normal haematological indices. The capillary electrophoresis of an 8-year- old-girl with normal...