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Article
Open AccessTargeted gene expression profiling for accurate endometrial receptivity testing
Expressional profiling of the endometrium enables the personalised timing of the window of implantation (WOI). This study presents and evaluates a novel analytical pipeline based on a TAC-seq (Targeted Allele ...
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Article
Open AccessGenome-wide association study identifies five risk loci for pernicious anemia
Pernicious anemia is a rare condition characterized by vitamin B12 deficiency anemia due to lack of intrinsic factor, often caused by autoimmune gastritis. Patients with pernicious anemia have a higher inciden...
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Article
In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages
Although chromosomal instability (CIN) is a common phenomenon in cleavage-stage embryogenesis following in vitro fertilization (IVF)1–3, its rate in naturally conceived human embryos is unknown. CIN leads to mosa...
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Article
Open AccessTAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting
Targeted next-generation sequencing (NGS) methods have become essential in medical research and diagnostics. In addition to NGS sensitivity and high-throughput capacity, precise biomolecule counting based on u...
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Article
Open AccessMeta-signature of human endometrial receptivity: a meta-analysis and validation study of transcriptomic biomarkers
Previous transcriptome studies of the human endometrium have revealed hundreds of simultaneously up- and down-regulated genes that are involved in endometrial receptivity. However, the overlap between the stud...
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Article
Open AccessGlobin mRNA reduction for whole-blood transcriptome sequencing
The transcriptome analysis of whole-blood RNA by sequencing holds promise for the identification and tracking of biomarkers; however, the high globin mRNA (gmRNA) content of erythrocytes hampers whole-blood an...
