16 research outputs found

    Validation of Extensive Next-Generation Sequencing Method for Monogenic Disorder Analysis on Cell-Free Fetal DNA: Noninvasive Prenatal Diagnosis

    No full text
    During pregnancy, a percentage of the cell-free DNA circulating in the maternal blood is represented by the cell-free fetal DNA (cffDNA), constituting an accessible source for noninvasive prenatal genetic screening. The coexistence of the maternal DNA, the dominant fraction of cell-free DNA, together with the cffDNA component and the scarcity of the cffDNA itself make applying traditional methods of genetics and molecular biology impossible. Next-generation sequencing methods are widely used to study fetal aneuploidies. However, in monogenic disorders, there have been relatively few studies that analyzed single mutations. We present a method for the analysis of an extended group of gene variants associated with recessive and dominant autosomal disorders using next-generation sequencing. The proposed test should allow a complete analysis of common genetic disorders and pathogen-associated variants for diagnostic use. The analysis of cffDNA for single gene disorders may replace invasive prenatal diagnosis methods, associated with the risk of spontaneous abortion and psychological stress for patients. The proposed test should assess reproductive risk for both genetic family disorders and de novo occurrences of the disease. The application of this method to a case of beta-thalassemia is also discussed

    Unconventional long range triplet proximity effect in planar YBa_2Cu_3O_7/La_0.7Sr_0.3MnO_3/YBa_2Cu_3O_7 Josephson junctions

    No full text
    © 2023 The Author(s). Work supported by Spanish AEI through Grant PID2020-118078RB-I00 and by Regional Government of Madrid CAM through SINERGICO Project Y2020/NMT-6661 CAIRO-CM. Work at CNRS/Thales lab supported by ERC Grant No. 647100 SUSPINTRONICS', French ANR Grant ANR-15-CE24-0008-01 SUPERTRONICS' and COST action Nanocohybri'. We acknowledge funding from Flag ERA ERA-NET To2Dox Project. J E V thanks C Ulysse and L Vila for collaboration in related projects.The proximity effect between superconductors and ferromagnets may become long range due to the generation of triplet pairs. The recent finding of a long, one micron-range unconventional Josephson effect between YBa_2Cu_3O_7 high Tc cuprates separated by a half metallic La_0.7Sr_0.3MnO_3 manganite ferromagnet has uncovered a novel unconventional triplet proximity effect. In this paper, we examine the temperature dependence of the critical current in planar Josephson junctions. We find that the critical current-normal resistance product follows the predictions of traditional superconductor-normal metal-superconductor junctions, which implies that triplet pairs in a ferromagnet are transported in the diffusive limit similarly to singlet pairs in a normal metal. This result calls for theoretical studies of the new triplet Josephson effect and underlines its potential in future superconducting spintronics.Unión Europea. H2020Ministerio de Ciencia, Innovación (MICINN)Comunidad de MadridAgence nationale de la recherche (ANR)Depto. de Física de MaterialesFac. de Ciencias FísicasTRUEpu
    corecore