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FetalQuant specifications


Unique identifier OMICS_16935
Name FetalQuant
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Computer skills Advanced
Stability Stable
Maintained Yes




No version available


  • person_outline Hao Sun

Publication for FetalQuant

FetalQuant citations


Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing

Int J Mol Sci
PMCID: 5343987
PMID: 28230760
DOI: 10.3390/ijms18020453

[…] To obviate the requirement of parental genotype information, an approach called FetalQuant was developed to measure the fetal DNA fraction through the analysis of maternal plasma DNA sequencing data at high depth using targeted massively parallel sequencing []. In this method, a […]


FetalQuantSD: accurate quantification of fetal DNA fraction by shallow depth sequencing of maternal plasma DNA

PMCID: 5685300
PMID: 29263813
DOI: 10.1038/npjgenmed.2016.13

[…] o improve diagnostic performance.This new method was named as FetalQuantSD. ‘SD’ stands for ‘shallow depth’ of sequencing data, which was used to highlight the difference from our previous algorithm ‘FetalQuant’ that uses high-depth sequencing data (e.g., targeted sequencing). […]


Summary of talks and papers at ISCB Asia/SCCG 2012

BMC Genomics
PMCID: 3639071
DOI: 10.1186/1471-2164-14-S2-I1

[…] Hong Kong), who also stressed the importance of making disease associations from exome or whole genome sequencing data easily interpretable for clinicians.A tool for non-invasive prenatal diagnosis, FetalQuant [], was presented in a highlights talk by Hao Sun (The Chinese University of Hong Kong). This tool estimates fractional fetal DNA concentration directly from massively parallel sequencing o […]


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FetalQuant institution(s)
Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Hong Kong, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong, China; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong, China
FetalQuant funding source(s)
This work was supported by the University Grants Committee of the Government of the Hong Kong Special Administrative Region, China, under the Areas of Excellence Scheme (AoE/M-04/06), a sponsored research agreement with Sequenom and an Endowed Chair from the Li Ka Shing Foundation.

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