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GWAS have emerged as popular tools for identifying genetic variants that are associated with disease risk. Standard analysis of a case-control GWAS involves assessing the association between each individual genotyped SNP and disease risk. However, this approach suffers from limited reproducibility and difficulties in detecting multi-SNP and epistatic(More)
OBJECTIVE To determine whether blastocyst biopsy and rapid quantitative real-time polymerase chain reaction (qPCR)-based comprehensive chromosome screening (CCS) improves in vitro fertilization (IVF) implantation and delivery rates. DESIGN Randomized controlled trial. SETTING Academic reproductive medicine center. PATIENT(S) Infertile couples in whom(More)
OBJECTIVE To determine whether performing comprehensive chromosome screening (CCS) and transferring a single euploid blastocyst can result in an ongoing pregnancy rate that is equivalent to transferring two untested blastocysts while reducing the risk of multiple gestation. DESIGN Randomized, noninferiority trial. SETTING Academic center for(More)
OBJECTIVE To develop and validate a quantitative real-time polymerase chain reaction (qPCR)-based method for blastocyst trophectoderm comprehensive chromosome screening (CCS) of aneuploidy. DESIGN Prospective, randomized, and blinded. SETTING Academic center for reproductive medicine. PATIENT(S) Nine cell lines were obtained from a commercial cell(More)
LGR7 and LGR8 are G protein-coupled receptors that belong to the leucine-rich repeat-containing G-protein coupled receptor (LGR) family, including the thyroid-stimulating hormone (TSH), LH and FSH receptors. LGR7 and LGR8 stimulate cAMP production upon binding of the cognate ligands, relaxin and insulin-like peptide 3 (INSL3), respectively. We cloned(More)
The growth characteristics of 6 human colorectal tumours have been examined during serial passage in both male and female immune-deprived mice. Exponential growth is a characteristic feature, especially on very early passages. Growth rates in 5 out of the 6 tumour lines increase during the first few transplant generations. This is accompanied by a shorter(More)
We report the development of a next-generation sequencing-based technology that entails construction of a DNA library comprising up to at least 4(7) (∼ 16,000) barcoded sequences, production of RNA transcripts, and analysis of transcript ends and transcript yields (massively systematic transcript end readout, "MASTER"). Using MASTER, we define full(More)
OBJECTIVE To investigate the applicability of next-generation sequencing (NGS) to preimplantation genetic diagnosis (PGD); to evaluate semiconductor-based NGS for genetic analysis of human embryos. DESIGN Blinded. SETTING Academic center for reproductive medicine. PATIENT(S) Six couples at risk of transmitting single-gene disorders to their offspring.(More)
BACKGROUND Single embryo transfer (SET) provides the most certain means to reduce the risk of multiple gestation. Regrettably, prospective trials of SET have demonstrated reductions in per-cycle delivery rates. A validated method of comprehensive chromosome screening (CCS) has the potential to optimize SET by transferring only euploid embryos. This(More)
OBJECTIVE To determine the clinically recognizable error rate with the use of quantitative polymerase chain reaction (qPCR)-based comprehensive chromosomal screening (CCS). DESIGN Retrospective study. SETTING Multiple fertility centers. PATIENT(S) All patients receiving euploid designated embryos. INTERVENTION(S) Trophectoderm biopsy for CCS. MAIN(More)