68 research outputs found

    Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)

    Get PDF

    Conformal thin-sandwich solver for generic initial data

    No full text
    We present a new scheme for constructing initial data for the Einstein field equations using the conformal thin-sandwich formulation that does not assume conformal flatness or approximate Killing vectors. This includes a method for determining free data based on superposition, as well as a way to handle black hole singularities without excision. We numerically solve the constraint equations using a multigrid algorithm with mesh refinement. We demonstrate the efficacy of the method with initial data solutions for several applications: a quasicircular binary black hole merger, a dynamical capture black hole-neutron star merger, and an ultrarelativistic collision.Comment: 12 pages, 8 figures, PRD in productio

    High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.

    No full text
    International audienceTunisian population is characterized by its heterogeneous ethnic background and high rate of consanguinity. In consequence, there is an increase in the frequency of recessive genetic disorders including Fanconi anemia (FA). The aim of this study was to confirm the existence of a founder haplotype among FA Tunisian patients and to identify the associated mutation in order to develop a simple tool for FA diagnosis. Seventy-four unrelated families with a total of 95 FA patients were investigated. All available family members were genotyped with four microsatellite markers flanking FANCA gene. Haplotype analysis and homozygosity mapping assigned 83 patients belonging to 62 families to the FA-A group. A common haplotype was shared by 42 patients from 26 families at a homozygous state while five patients from five families were heterozygous. Among them, 85% were from southern Tunisia suggesting a founder effect. Using multiplex ligation-dependent probe amplification (MLPA) technique, we have also demonstrated that this haplotype is associated with a total deletion of exon 15 in FANCA gene. Identification of a founder mutation allowed genetic counseling in relatives of these families, better bone marrow graft donor selection and prenatal diagnosis. This mutation should be investigated in priority for patients originating from North Africa and Middle East
    • 

    corecore