Retrospective study revealed integration of CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities.

Fetal chromosomal abnormalities are the main cause of adverse pregnancy outcomes and are the focus of invasive prenatal diagnosis. Recent studies have demonstrated that various techniques have distinct advantages. Achieving high-resolution and effective prenatal chromosomal abnormality diagnosis requires a multi-technology integration strategy.

A novel PLS1 c.981+1G>A variant causes autosomal-dominant hereditary hearing loss in a family.

The fimbrin protein family contains a variety of proteins, among which Plastin1 (PLS1) is an important member. According to recent studies, variations in the coding region of the PLS1 gene are associated with the development of deafness. However, the molecular mechanism of deafness caused by PLS1 gene variants remains unknown.

Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Congenital heart disease (CHD) is the most common congenital malformation in fetuses and neonates, which also represents a leading cause of mortality. Although significant progress has been made by emerging advanced technologies in genetic etiology diagnosis, the causative genetic mechanisms behind CHD remain poorly understood and more than half of CHD patients lack a genetic diagnosis. Unlike carefully designed large case-control cohorts by multicenter trials, we designed a reliable strategy to analyze case-only cohorts to utilize clinical samples sufficiently.

Effective Identification of Maternal Malignancies in Pregnancies Undergoing Noninvasive Prenatal Testing.

The existence of maternal malignancy may cause false-positive results or failed tests of NIPT. Though recent studies have shown multiple chromosomal aneuploidies (MCA) are associated with malignancy, there is still no effective solution to identify maternal cancer patients from pregnant women with MCA results using NIPT. We aimed to develop a new method to effectively detect maternal cancer in pregnant women with MCA results using NIPT and a random forest classifier to identify the tissue origin of common maternal cancer types.

Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing.

Hereditary hearing loss is highly heterogeneous. Despite over 120 non-syndromic deafness genes have been identified, there are still some of novel genes and variants being explored. In the study, we investigated 105 Chinese Han children with non-syndromic, prelingual, severe-profound hearing loss by whole-exome sequencing on DNA samples.

[A case of neonatal Cornelia de Lange syndrome caused by a novel variant of SMC1A gene].

Objective: To explore the genetic etiology of a neonate with suggestive features of Cornelia de Lange Syndrome (CdLS).

Methods: Chromosome karyotyping, copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) were carried out for the child. Meanwhile, peripheral venous blood samples were taken from his parents for verifying the suspected pathogenic variants detected in the child.

Two Novel Pathogenic Variants of Gene and the Underlying Molecular Mechanisms in Progressive Familial Intrahepatic Cholestasis Type 4 Patients.

Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive inherited disease that accounts for 10%-15% childhood cholestasis and could lead to infant disability or death. There are three well-established types of PFIC (1-3), caused by mutations in the , , and genes. Biallelic pathogenic variants in the tight junction protein 2 gene () were newly reported as a cause for PFIC type 4; however, only a limited number of patients and undisputable variants have been reported for , and the underlying mechanism for PFIC 4 remains poorly understood.

Efficacy of Oxidized Regenerated Cellulose/Collagen Dressing for Management of Skin Wounds: A Systematic Review and Meta-Analysis.

Objective: The purpose of this study was to evaluate the wound healing efficacy of oxidized regenerated cellulose (ORC)/collagen dressing and ORC/collagen/silver-ORC dressings compared to standard of care or control in treatment of chronic skin wounds such as diabetic foot ulcers (DFUs), venous leg ulcers (VLUs), and pressure injuries sore ulcers (PISUs).

Methods: An electronic search was carried out in four popular databases PubMed, Scopus, Embase, and CENTRAL to identify thirteen included studies, comparing the clinical efficacy of ORC/collagen dressings when compared to control in management of chronic skin wounds, especially DFUs, VLUs, and PISUs, and skin graft donor site wounds.

Results: Consolidated data from thirteen comparative clinical studies undertaken for management of DFUs, VLUs, and PISUs showed favorable outcomes towards use of ORC/collagen compared to other traditional and hydrocolloid foam dressings in terms of wound healing rate (=0.

Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases.

Background: Noninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (CNVs). This study was performed to investigate the performance of expanded noninvasive prenatal testing (expanded NIPT) in screening for common trisomies, sex chromosomal aneuploidies (SCAs), rare autosomal aneuploidies (RATs), and copy number variations (CNVs) and parental willingness for invasive prenatal diagnosis in a Chinese prenatal diagnosis center.

Identification of copy number variants by NGS-based NIPT at low sequencing depth.

Objective: To explore the clinical utility of detecting chromosome copy number variants (CNVs) in the fetus by noninvasive prenatal testing (NIPT) using the low-pass whole-genome sequencing.

Methods: Eight hundred and seventy-three singleton pregnancies with chromosomal microarray analysis (CMA) available between January 2017 to December 2019 and stored enough plasma sample for NIPT testing were included in this study. The CMA results show that forty-eight pregnancies with CNVs and eight hundred and twenty-five pregnancies are normal.

[Retrospective analysis and mining of data from 10 840 patients undergoing non-invasive prenatal screening].

Objective: To retrospectively analyze non-invasive prenatal screening (NIPS) data from two centers.

Methods: The NIPS results of 10 840 samples were analyzed, including 21/18/13 trisomies (T21/T18/T13), sex chromosome and other autosomal aneuploidies, and copy number variants (CNVs). The maternal age, gestational week, body mass index and concentration of free fetal DNA (cffDNA) were also analyzed.

Targeted molecular profiling of genetic alterations in colorectal cancer using next-generation sequencing.

Colorectal cancer (CRC) is a major contributor to cancer-associated mortality in China and remains a vast challenge worldwide. Although the genetic basis of CRC has been investigated, the uncommonly mutated genes in CRC remain unknown, in particular in the Asian population. In the present study, targeted region sequencing on 22 CRC and 10 paired non-cancerous tissues was performed to determine the genetic pattern of CRC samples in the Chinese population.

Profile of HBV Integration in the Plasma DNA of Hepatocellular Carcinoma Patients.

Background: Hepatitis B Viral (HBV) infection is one of the major causes of Hepatocellular Carcinoma (HCC). Mounting evidence had provided that the HBV integration might be a critical con-tributor of HCC carcinogenesis.

Objective And Methods: To explore the profile of HBV integration in the plasma DNA, the method of next-generation sequencing, HBV capture and bioinformatics had been employed to screen for HBV in-tegration sites in the plasma samples.

Characteristic of HPV Integration in the Genome and Transcriptome of Cervical Cancer Tissues.

High-risk HPV is clearly associated with cervical cancer. HPV integration has been confirmed to promote carcinogenesis in the previous studies. In our study, a total of 285 DNA breakpoints and 287 RNA breakpoints were collected.

LIM kinase1 regulates mitotic centrosome integrity via its activity on dynein light intermediate chains.

Abnormal centrosome number and function have been implicated in tumour development. LIM kinase1 (LIMK1), a regulator of actin cytoskeleton dynamics, is found to localize at the mitotic centrosome. However, its role at the centrosome is not fully explored.

Development and clinical validation of a circulating tumor DNA test for the identification of clinically actionable mutations in nonsmall cell lung cancer.

Molecular analysis of potentially actionable mutations has become routine practice in oncological pathology. However, testing a wide range of oncogenes and mutations can be technically challenging because of limitations associated with tumor biopsy. Circulating tumor DNA (ctDNA) is a potential tool for the noninvasive profiling of tumors.

Heteroplasmy and Copy Number Variations of Mitochondria in 88 Hepatocellular Carcinoma Individuals.

Hepatocellular carcinoma (HCC) is the third leading cause of cancer mortality worldwide. In this study, we had analysed the copy number variations and heteroplasmic mutations of mitochondria (MT) in 88 HCC individuals. The average copy number of MT genome in normal samples was significantly greater than that in tumor samples.

MDH2 Stimulated by Estrogen-GPR30 Pathway Down-Regulated PTEN Expression Promoting the Proliferation and Invasion of Cells in Endometrial Cancer.

Purpose: The relationship between endometrial carcinoma and cellular metabolism is unknown. In endometrial cancer, mutation rate of PTEN has been reported very high. Malate dehydrogenase 2 (MDH2) is one of the isoforms of malate dehydrogenase, which is involved in citric acid cycle in mitochondria.

The mitochondrial genome of the winter stonefly Apteroperla tikumana (Plecoptera, Capniidae).

The mitochondrial genome of Apteroperla tikumana was assembled from transcriptome using SOAPdenovo-Trans. A nearly complete mitogenome, 15 564 bp in length, was obtained, including 13 protein-coding genes, two ribosomal RNA genes, and 22 transfer RNA genes. The base composition is A (34.

Mitochondrial capture enriches mito-DNA 100 fold, enabling PCR-free mitogenomics biodiversity analysis.

Biodiversity analyses based on next-generation sequencing (NGS) platforms have developed by leaps and bounds in recent years. A PCR-free strategy, which can alleviate taxonomic bias, was considered as a promising approach to delivering reliable species compositions of targeted environments. The major impediment of such a method is the lack of appropriate mitochondrial DNA enrichment ways.

High-throughput monitoring of wild bee diversity and abundance via mitogenomics.

Bee populations and other pollinators face multiple, synergistically acting threats, which have led to population declines, loss of local species richness and pollination services, and extinctions. However, our understanding of the degree, distribution and causes of declines is patchy, in part due to inadequate monitoring systems, with the challenge of taxonomic identification posing a major logistical barrier. Pollinator conservation would benefit from a high-throughput identification pipeline.

The complete mitochondrial genome of the pumpkin fruit fly, Bactrocera tau (Diptera: Tephritidae).

The pumpkin fruit fly, Bactrocera tau, is an important quarantine pest in many countries because of its mass destructiveness to a variety of vegetable and fruit plants. In this study, we report the complete mitochondrial genome (mitogenome) of B. tau.

Mitochondrial genome of Hylaeus dilatatus (Hymenoptera: Colletidae).

Bees are one of the most well-known and important type of pollinators in agriculture and natural ecosystems, and maintaining their diversity in nature is essential. In this study, we report the complete mitochondrial genome of Hylaeus dilatatus, the first mitochondrial genome of Colletidae. Its complete mtDNA sequence is 15,475 bp in length, which contains 13 protein-coding genes, 22 transfer RNA genes, two ribosomal RNA genes and one control region.