Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis
- 10 March 2023
- journal article
- research article
- Published by Elsevier in American Journal of Obstetrics and Gynecology
- Vol. 229 (3) , 302.e1-302.e18
Abstract
No abstract availableKeywords
Funding Information
- Natural Science Foundation of Jiangsu Province (BK20210037)
- National Key Research and Development Program of China (2021YFC1005301, 2022YFC2703400)
- National Natural Science Foundation of China (81971398, 82101943, 82103927)
This publication has 56 references indexed in Scilit:
- LUMPY: a probabilistic framework for structural variant discoveryGenome Biology, 2014
- Genome sequencing identifies major causes of severe intellectual disabilityNature, 2014
- Technology: The $1,000 genomeNature, 2014
- Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care UnitsScience Translational Medicine, 2012
- COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targetsHuman Molecular Genetics, 2012
- Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosisHuman Molecular Genetics, 2012
- CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencingGenome Research, 2011
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing dataGenome Research, 2010
- Fast and accurate long-read alignment with Burrows–Wheeler transformBioinformatics, 2010
- The Sequence Alignment/Map format and SAMtoolsBioinformatics, 2009