Research graph
References from GenomeMixer and TRUST: Novel bioinformatics tools to improve reliability of Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies. Local targets link to admitted publications; unresolved targets remain external evidence.
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
10.1038/ejhg.2014.282 · 2015 · External reference
10.1016/s0140-6736(97)02174-0
10.1016/s0140-6736(97)02174-0 · External reference
Non-invasive prenatal diagnosis using massively parallel sequencing
2012 · External reference
Fetal fraction and noninvasive prenatal testing: What clinicians need to know
2020 · External reference
The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
10.1002/pd.4126 · 2013 · External reference
Performance of non-invasive prenatal testing when fetal cell-free DNA is absent
10.1002/uog.14715 · 2015 · External reference
WisecondorX: improved copy number detection for routine shallow whole-genome sequencing
10.1093/nar/gky1263 · 2019 · External reference
Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions
10.1371/journal.pone.0238245 · 2020 · External reference
Total number of reads affects the accuracy of fetal fraction estimates in NIPT
10.1002/mgg3.1653 · 2021 · External reference
10.1371/journal.pone.0010439
10.1371/journal.pone.0010439 · External reference
NiPTUNE: an automated pipeline for noninvasive prenatal testing in an accurate, integrative and flexible framework
2021 · External reference
Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts: determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts
10.1002/pd.4615 · 2015 · External reference
Comparing methods for fetal fraction determination and quality control of NIPT samples
10.1002/pd.5079 · 2017 · External reference
10.1016/j.tig.2016.03.009
10.1016/j.tig.2016.03.009 · External reference
Size-tagged preferred ends in maternal plasma DNA shed light on the production mechanism and show utility in noninvasive prenatal testing
2018 · External reference
Combination of fetal fraction estimators based on fragment lengths and fragment counts in non-invasive prenatal testing
10.3390/ijms20163959 · 2019 · External reference
Application of risk score analysis to low-coverage whole genome sequencing data for the noninvasive detection of trisomy 21, trisomy 18, and trisomy 13
10.1002/pd.4712 · 2016 · External reference
