MOESM1 of Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

Additional file 1: Figure S1. Methylation string diagrams of significantly altered regions in ATR-X patients and controls. Bisulfite mutagenesis and sequencing analysis was performed in approximately 20 alleles from each sample, and individual alleles are represented as a string of CpGs. The total average methylation for each sample is indicated. Unmethylated CpGs are represented as empty circles, and methylated CpGs as filled circles

MOESM2 of Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

Additional file 2: Table S1. ATR-X methylation; significant regions detected by methylation array in ATR-X patients (n = 17) compared with controls (n = 210) using cutoff of probes >3, estimate >15%, F value >50, p value <0.01

PhenomeCentral: An Integrated Portal for Sharing and Searching Patient Phenotype Data for Rare Genetic Disorders.

<p>The availability of low-cost genome sequencing has allowed for the identification of the molecular cause of hundreds of rare genetic disorders. Solved disorders, however, only represent the “tip of the iceberg”. Because the discovery of disease-causing variants typically requires confirmation of the mutation or gene in multiple unrelated individuals, an even larger number of genetic disorders remain unsolved due to difficulty identifying second families. With many groups now tackling these remaining undiagnosed disorders, which may be present in only a handful of individuals seen at different hospitals and sequenced by different centers, it is critical to establish effective and secure data-sharing techniques that allow clinicians and scientists to identify additional families via phenotype and genotype searches.</p> <p>To address this need, we have developed PhenomeCentral (http://phenomecentral.org), a repository for secure data sharing targeted to the rare disorder community. Each patient record within PhenomeCentral consists of a thorough phenotypic description capturing observed abnormalities as well as relevant absent manifestations, expressed using Human Phenotype Ontology terms. Furthermore, each record can be labeled by the creator as: private ‒ hidden from everyone except the contributor; public ‒ viewable and searchable by all registered users; or matchable ‒ the record cannot be directly viewed or searched, but is reachable via an automated phenotype matching system (following Cafe Variome principles) which informs contributors of the existence of profiles similar to their cases.</p> <p>PhenomeCentral currently incorporates phenotype data for hundreds of patients with rare genetic disorders without a molecular diagnosis, including ongoing submissions from the Canadian CARE for RARE project and the NIH Undiagnosed Diseases Program (UDP). Clinical geneticists and scientists studying rare disorders can request accounts, and new patients can be added either using the PhenoTips User Interface, built into PhenomeCentral, or uploaded in bulk.</p

Additional file 1: of Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

Table S1. SCA29 Questionnaire. Table S2. Assessment of pathogenicity for ITPR1 variants identified in this study. (DOCX 1606 kb