Background: Mate-pair sequencing detects both balanced and unbalanced structural variants (SVs) and simultaneously informs in relation to both genomic location and orientation of SVs for enhanced variant classification and clinical interpretation, while chromosomal microarray analysis (CMA) only reports deletion/duplication. Herein, we evaluated its diagnostic utility in a prospective back-to-back prenatal comparative study with CMA.
Methods: From October 2021 to September 2023, 426 fetuses with ultrasound anomalies were prospectively recruited for mate-pair sequencing and CMA in parallel for prenatal genetic diagnosis.
Objectives: To investigate the diagnostic utility of copy-number variant (CNV) detection by chromosomal microarray analysis (CMA) and genotype-phenotype associations in prenatal congenital anomalies of the kidney and urinary tract (CAKUT).
Methods: This is a retrospective multi-center study of CNV analysis in 457 fetuses with ultrasound-detected CAKUT and normal karyotypes. Cohorts from published studies were included for further pooled analyses (N = 2746).
Best Pract Res Clin Obstet Gynaecol
December 2024
Prenatal genetic diagnosis has undergone two pivotal paradigm shifts, initially with the introduction of chromosomal microarray and subsequently with the advent of next-generation sequencing technologies (NGS). NGS technology has given rise to a multitude of applications, with gene panels, exome sequencing (ES), and genome sequencing (GS) emerging as highly promising tests for prenatal genetic investigations. These advanced approaches have demonstrated superior diagnostic rates when compared to conventional testing methods, showcasing the evolution and enhancement of prenatal genetic screening and diagnostic capabilities.
View Article and Find Full Text PDFObjective: Clinical validity of genome sequencing (GS) (>30×) has been preliminarily verified in the post-natal setting. This study is to investigate the potential utility of trio-GS as a prenatal test for diagnosis of central nervous system (CNS) anomalies.
Methods: We performed trio-based GS on a prospective cohort of 17 foetuses with CNS abnormalities.
Doping narrow-gap semiconductors is a well-established approach for designing efficient thermoelectric materials. Semiconducting half-Heusler (HH) and full-Heusler (FH) compounds have garnered significant interest within the thermoelectric field, yet the number of exceptional candidates remains relatively small. It is recently shown that the vacancy-filling approach is a viable strategy for expanding the Heusler family.
View Article and Find Full Text PDFResearch (Wash D C)
August 2024
Research on the flexible hybrid epidermal electronic system (FHEES) has attracted considerable attention due to its potential applications in human-machine interaction and healthcare. Through material and structural innovations, FHEES combines the advantages of traditional stiff electronic devices and flexible electronic technology, enabling it to be worn conformally on the skin while retaining complex system functionality. FHEESs use multimodal sensing to enhance the identification accuracy of the wearer's motion modes, intentions, or health status, thus realizing more comprehensive physiological signal acquisition.
View Article and Find Full Text PDFTo improve thermoelectric efficiency, various tactics have been employed with considerable success to decouple intertwined material attributes. However, the integration of magnetism, derived from the unique spin characteristic that other methods cannot replicate, has been comparatively underexplored and presents an ongoing intellectual challenge. A previous research has shown that vacancy-filling Heuslers offer a highly adaptable framework for modulating thermoelectric properties.
View Article and Find Full Text PDFProstate cancer (PCa) is a leading cause of cancer-related death in men, and most PCa patients treated with androgen deprivation therapy will progress to metastatic castration-resistant prostate cancer (mCRPC) due to the lack of efficient treatment. Recently, lots of research indicated that photothermal therapy (PTT) was a promising alternative that provided an accurate and efficient prostate cancer therapy. A photothermic agent (PTA) is a basic component of PPT and is divided into organic and inorganic PTAs.
View Article and Find Full Text PDFPurpose: The goal of this study is to determine whether any balanced translocation (BT) had been missed by previous karyotyping in patients with unexplained recurrent pregnancy loss (uRPL).
Methods: This case series included 48 uRPL-affected couples with normal karyotypes. The embryos from these couples have all undergone preimplantation testing for aneuploidies (PGT-A).
Front Cell Dev Biol
November 2023
Currently, the mechanism(s) underlying corticogenesis is still under characterization. We curated the most comprehensive single-cell RNA-seq (scRNA-seq) datasets from mouse and human fetal cortexes for data analysis and confirmed the findings with co-immunostaining experiments. By analyzing the developmental trajectories with scRNA-seq datasets in mice, we identified a specific developmental sub-path contributed by a cell-population expressing both deep- and upper-layer neurons (DLNs and ULNs) specific markers, which occurred on E13.
View Article and Find Full Text PDFN-type ZrNiSn-based alloys reach a record thermoelectric figure of merit zT ≈1.2 by increasing the carrier concentration to 4-5 × 10 cm . In this work, It is reported that a comparable zT can also be realized in trace Ru-doped ZrNiSn-based alloy at even lower temperature by decreasing the carrier concentration.
View Article and Find Full Text PDFSubmission of a non-biological parent together with a proband for genetic diagnosis would cause a misattributed parentage (MP), possibly leading to misinterpretation of the pathogenicity of genomic variants. Therefore, a rapid and cost-effective paternity/maternity test is warranted before genetic testing. Although low-pass genome sequencing (GS) has been widely used for the clinical diagnosis of germline structural variants, it is limited in paternity/maternity tests due to the inadequate read coverage for genotyping.
View Article and Find Full Text PDFSurvival rates for children and adolescents diagnosed with malignancy have been steadily increasing due to advances in oncology treatments. These treatments can have a toxic effect on the gonads. Currently, oocyte and sperm cryopreservation are recognized as well-established and successful strategies for fertility preservation for pubertal patients, while the use of gonadotropin-releasing hormone agonists for ovarian protection is controversial.
View Article and Find Full Text PDFCurrently, routine genetic investigation for male infertility includes karyotyping analysis and PCR for Y chromosomal microdeletions to provide prognostic information such as sperm retrieval success rate. However, over 85% of male infertility remain idiopathic. We assessed 101 male patients with primary infertility in a retrospective cohort analysis who have previously received negative results from standard-of-care tests.
View Article and Find Full Text PDFCharacterization of the specific expression and chromatin profiles of genes enables understanding how they contribute to tissue/organ development and the mechanisms leading to diseases. Whilst the number of single-cell sequencing studies is increasing dramatically; however, data mining and reanalysis remains challenging. Herein, we systematically curated the up-to-date and most comprehensive datasets of sequencing data originating from 2760 bulk samples and over 5.
View Article and Find Full Text PDFRecent advances in genomic sequencing technologies have expanded practitioners' utilization of genetic information in a timely and efficient manner for an accurate diagnosis. With an ever-increasing resource of genomic data from progress in the interpretation of genome sequences, clinicians face decisions about how and when genomic information should be presented to families, and at what potential expense. Presently, there is limited knowledge or experience in establishing the value of implementing genome sequencing into newborn screening.
View Article and Find Full Text PDFStructural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements (such as inversion or translocations), and complex combinations of several distinct rearrangements. SVs are known to play a significant role in contributing to human genomic disorders by disrupting the protein-coding genes or the interaction(s) with cis-regulatory elements.
View Article and Find Full Text PDFApparently balanced chromosomal structural rearrangements are known to cause male infertility and account for approximately 1% of azoospermia or severe oligospermia. However, the underlying mechanisms of pathogenesis and etiologies are still largely unknown. Herein, we investigated apparently balanced interchromosomal structural rearrangements in six cases with azoospermia/severe oligospermia to comprehensively identify and delineate cryptic structural rearrangements and the related copy number variants.
View Article and Find Full Text PDFHalf-Heusler and full-Heusler compounds were considered as independent phases with a natural composition gap. Here we report the discovery of TiRuSb (x = 0.15 ~ 1.
View Article and Find Full Text PDFWith the advent of genomic sequencing, a number of balanced and unbalanced structural variants (SVs) can be detected per individual. Mainly due to incompleteness and the scattered nature of the available annotation data of the human genome, manual interpretation of the SV's clinical significance is laborious and cumbersome. Since bioinformatic tools developed for this task are limited, a comprehensive tool to assist clinical outcome prediction of SVs is warranted.
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