Analysis of chromosomal aberrations in early pregnancy loss using high-throughput ligation-dependent probe amplification and single tandem repeats [0.03%]
应用高效连接依赖性探针扩增和单个串联重复序列分析早期流产的染色体异常
Rong Wei,Haili Hu,Shenlin Wang et al.
Rong Wei et al.
Introduction: Embryonic chromosomal abnormalities are the major cause of miscarriage. As a relatively novel genetic screening technology, high-throughput ligation-dependent probe amplification combined with short tandem r...
A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes [0.03%]
与卵子受精阻滞和精子染色质提前凝集相关的同合子TRIP13致病性变异体
Michal Schweiger,André Reis,Esen Gümüslü et al.
Michal Schweiger et al.
We report on a consanguineous family with two infertile sisters with oocyte arrest and prematurely condensed sperm chromosomes. A genome-wide linkage scan and exome sequencing revealed a homozygous variant in the gene for the thyroid recept...
Comparative analysis of hybrid-SNP microarray and nanopore sequencing for detection of large-sized copy number variants in the human genome [0.03%]
比较分析杂交SNP微阵列和纳米孔测序在人类基因组中检测大片段拷贝数变异的能力
Catarina Silva,José Ferrão,Bárbara Marques et al.
Catarina Silva et al.
Background: Nanopore sequencing is a technology that holds great promise for identifying all types of human genome variations, particularly structural variations. In this work, we used nanopore sequencing technology to se...
Assessing the reliability of ChatGPT in cytogenetic reporting and interpretation: implications for clinical use [0.03%]
评估ChatGPT在细胞遗传学报告和解读中的可靠性：对临床应用的影响
Alain Chebly,Lauren Veronese,Edith Chevret
Alain Chebly
This study evaluates the accuracy of ChatGPT in generating chromosomal representations (formulas) based on ISCN rules in clinical cytogenetics. While ChatGPT generated correct answers for simple cases, it frequently failed in complex cases....
Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report [0.03%]
儿童B淋巴母细胞白血病中同时发生染色体14臂内倒位和8号染色体四体现象的细胞遗传学发现-病例报告
Kiran Sachwani,Rehab Pasha,Bushra Kaleem et al.
Kiran Sachwani et al.
Background: Clonal cytogenetic abnormalities in B-lymphoblastic leukemia (B-ALL) include structural and numerical chromosomal alterations, where numerical are the most common aberrations. Inversion 14 [inv(14)] is an infr...
Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features [0.03%]
CNV-seq检测到的传统核型分析遗漏的无临床表型胎儿9P微缺失综合征拷贝数变异阳性案例报告
Xingkun Yang,Yasi Zhou,Xiaodan Zhu et al.
Xingkun Yang et al.
Introduction: A unique case of mosaic tetrasomy 9p was found using CNV-seq analysis of uncultured amniocytes, which was missed by karyotype analysis of cultured amniocytes. ...
What the VAF? A guide to the interpretation of variant allele fraction, percent mosaicism, and copy number in cancer [0.03%]
VAF是什么？关于变异等位基因分数、百分比嵌合体和拷贝数在癌症中的解读指南
Adam C Smith,Hubert Tsui,Sila Usta et al.
Adam C Smith et al.
The evolution of techniques used to identify structural variants (SVs) and copy number variants (CNVs) in genomes have seen significant development in the last decade. With the growing use of more technologies including chromosomal microarr...
Incorporating automation in a cytogenetics laboratory: three practitioners' perspectives on benefits and limitations [0.03%]
细胞遗传学实验室中自动化应用的三个从业人员观点：优势与局限性分析
Cecelia Miller,Jennie Thurston,Ninette Cohen
Cecelia Miller
Automation has been developed and continues to be refined for cytogenetics, including advances in the processing of samples, in analysis of conventional chromosome and fluorescence in situ hybridization (FISH) testing, and with artificial i...
Julia Mestre,Lorea Chaparro-González,Isabel Granada et al.
Julia Mestre et al.
Among the human leukemia cell lines described in the literature, only the MDS-L cell line has been definitively established from a patient during the myelodysplastic syndrome (MDS) phase of the disease. However, the limited studies on its g...
Optical genome mapping enhances cytogenetic analysis in recurrent miscarriage: confirmation of a suspected (1;10) chromosomal translocation [0.03%]
光学基因组映射可增强复发性流产的细胞遗传分析：确认一个疑似（1；10）染色体重排
María Del Mar Del Águila,Mónica Bernal,José Ramón Vílchez et al.
María Del Mar Del Águila et al.
Background: Optical genome mapping (OGM) is a next-generation cytogenetic technique that may be beneficial for detecting subtle structural chromosomal alterations that can go unnoticed with conventional studies in couples...