Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?
Author:
Affiliation:
1. VCGS Cytogenetics Laboratory; Murdoch Childrens Research Institute; Royal Children's Hospital; Parkville; Australia
2. Royal Women's Hospital; Parkville; Australia
Publisher
Wiley
Subject
Obstetrics and Gynaecology
Reference38 articles.
1. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities;Manning;Genet Med,2010
2. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies;Miller;Am J Hum Genet,2010
3. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis;Vissers;J Med Genet,2010
4. Novel microdeletion syndromes detected by chromosome microarrays;Slavotinek;Hum Genet,2008
5. Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders;Aradhya;Genet Med,2012
Cited by 35 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach;Diagnostics;2023-12-29
2. Termination of pregnancy for fetal anomaly: a systematic review of the healthcare experiences and needs of parents;BMC Pregnancy and Childbirth;2022-05-26
3. Single nucleotide polymorphism array versus karyotype for prenatal diagnosis in fetuses with abnormal ultrasound: A systematic review and meta-analysis;European Journal of Obstetrics & Gynecology and Reproductive Biology;2022-04
4. Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis;Diagnostics;2022-02-23
5. Whole-exome sequencing: A changing landscape of prenatal counseling;Prenatal Genetic Counseling;2022
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3