Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0015-0282(02)04805-7 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The value of increasing sequencing depth for noninvasive prenatal screening for whole chromosomal aneuploidy.
Sci Rep
January 2025
Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, 511442, Guangdong, China.
To evaluate the value of increasing sequencing depths of non-invasive prenatal testing (NIPT) for fetal chromosomal aneuploidies based on the semiconductor sequencing platform. This study recruited a cohort of 59,800 singleton pregnancies from Guangdong Women and Children Hospital between January 2015 and December 2020, including 48,018 cases of NIPT and 11,782 cases of expanded NIPT. Cell-free DNA from plasma samples was sequenced at a sequencing depth of 0.
View Article and Find Full Text PDFWhen did recombination suppression events occur in bird ZW sex chromosomes?
Nat Commun
January 2025
Institute of Ecology and Evolution, University of Edinburgh, Edinburgh, UK.
Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping.
J Clin Lab Anal
January 2025
Department of Urology, Zhongshan People's Hospital, ZhongShan, China.
Objective: To explore the impact of in vitro cell subculture on prenatal diagnostic sample results and compare the efficacy of conventional karyotyping and chromosomal microarray analysis (CMA) in detecting chromosome mosaicism.
Methods: We conducted a retrospective analysis of G-banding karyotyping and CMA data from 2007 amniocentesis cases to investigate chromosome mosaicism.
Results: Chromosome mosaicism was detected in 1.
Clinical and genetic diagnosis of first cohort of differences of sexual development in the Iranian population.
J Pediatr Endocrinol Metab
January 2025
Department of Genetics, Reproductive Biomedicine Research Center, 48499 Royan Institute for Reproductive Biomedicine, ACECR , Tehran, Iran.
Differences of sex development (DSD) refer to various congenital conditions affecting the urogenital and hormonal systems. Accurate diagnosis and personalized management are crucial for supporting patients through complex decisions, such as those related to gender identity. This study represents the first comprehensive investigation into DSD in Iran, analyzing patient's clinical and genetic data between 1991 and 2020.
View Article and Find Full Text PDFNear telomere-to-telomere genome assemblies of Silkie Gallus gallus and Mallard Anas platyrhynchos restored the structure of chromosomes and "missing" genes in birds.
J Anim Sci Biotechnol
January 2025
Frontiers Science Center for Molecular Design Breeding (MOE), State Key Laboratory of Animal Biotech Breeding, and National Engineering Laboratory for Animal Breeding, College of Animal Science and Technology, China Agricultural University, Beijing, 100193, China.
Background: Chickens and ducks are vital sources of animal protein for humans. Recent pangenome studies suggest that a single genome is insufficient to represent the genetic information of a species, highlighting the need for more comprehensive genomes. The bird genome has more than tens of microchromosomes, but comparative genomics, annotations, and the discovery of variations are hindered by inadequate telomere-to-telomere level assemblies.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!