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Additional file 1: Results of the next generation sequencing-based DMD mutation detection for Family 1.

Background: Preimplantation genetic test for monogenic disorders (PGT-M) has been used to select genetic disease-free embryos for implantation during in vitro fertilization (IVF) treatment. However, embryos tested by PGT-M have risks of harboring chromosomal aneuploidy. Hence, a universal method to detect monogenic diseases and genomic imbalances is required.Methods: Here, we report a novel PGT-A/M procedure allowing simultaneous detection of monogenic diseases and genomic imbalances in one experiment. Library was prepared in a special way that multiplex polymerase chain reaction (PCR) was integrated into the process of whole genome amplification. The resulting library was used for one-step low-pass whole genome sequencing (WGS) and high-depth target enrichment sequencing (TES).Results: The TAGs-seq PGT-A/M was first validated with genomic DNA (gDNA) and the multiple displacement amplification (MDA) products of a cell line. Over 90% of sequencing reads covered the whole-genome region with around 0.3–0.4 × depth, while around 5.4%–7.3% of reads covered target genes with >10000 × depth. Then, for clinical validation, 54 embryos from 8 women receiving PGT-M of β-thalassemia were tested by the TAGs-seq PGT-A/M. In each embryo, an average of 20.0 million reads with 0.3 × depth of the whole-genome region was analyzed for genomic imbalance, while an average of 0.9 million reads with 11260.0 × depth of the target gene HBB were analyzed for β-thalassemia. Eventually, 18 embryos were identified with genomic imbalance with 81.1% consistency to karyomapping results. 10 embryos contained β-thalassemia with 100% consistency to conventional PGT-M method.Conclusion: TAGs-seq PGT-A/M simultaneously detected genomic imbalance and monogenic disease in embryos without dramatic increase of sequencing data output.

Self-standing metal-organic framework (MOF) membranes open up several application areas where their use in the powder form is either not possible or non-sustainable. Most MOF membranes are prepared as a thin layer either on a supporting substrate or used as a composite membrane with additional supporting material. In this work, we present the preparation procedure for making highly stable, easy-to-handle, reusable, efficient pure MOF membranes (UiO-66-SO3H and UiO-66-NH2 membranes; thickness 240±12 μm and 265±10 μm, respectively) with hollow fiber morphology and their use in cascade reactions in one-pot catalyzed by incompatible acid-base in tea-bag-type concept. The catalytic performance of the catalyst membranes was tested by reacting benzaldehyde dimethyl acetal with three active methylene compounds. The membranes exhibited excellent catalytic activity in cascade reactions in one pot (the yield of the product was as high as 99.9 %) and can be reutilized up to 15 times without any significant loss in activity. Stable pure MOF membranes, as shown in this work, would be of interest for several other applications beyond catalysis.

Additional file 1: Table S1. The detailed SNP array and NGS results of the 105 alleged mosaic blastocysts diagnosed by SNP array.

International audience; Recently reprogramming of somatic cells from a differentiated to plunpotent state by over expression of specifie external transcription factors has been accomplished. lt has been widely speculated that an undifferentiated state may make donor cells more efficient for nuclear transfer. To test this hypothesis we derived induced pluripotent stem cells (iPS cells) from severa! somatic cell lines: mouse embryonic fibroblast (MEF), adult tail tip fibroblast (TTF) and brain neurons stem cells (NSC). 30-FISH and 0-FISH were then used to evaluate constitutive (pericentric and telomeric) heterochromatin mganization in these iPS cells and in their parental differentiated cells. Here, we show that important nuclear remodeling and telomeres rejuvenation occurs in these iPS cells regardless of their parental origin. When we used these · cells as donors for nuclear transfer, we produced live-born cloned mice at much higller rates with the iPS-induced cells than with the parental cell !ines. lnterestingly, we noticed that developmental potential after nuclear transfer could be correlated with telomere length of the donor cells. Altogether, our findings suggest !hat constitutive heterochromatin organization from differentiated somatic cells can be reprogrammed to the pluripotent state by induction of iPS cells, which in turn support nuclear transfer procedure quite efficiently.

International audience