Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA.

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Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA. is …
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scholarly articleQ13442814

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P819ADS bibcode2016PLoSO..1159233L
P356DOI10.1371/JOURNAL.PONE.0159233
P932PMC publication ID4945049
P698PubMed publication ID27415003

P50authorJun WangQ16027697
P2093author name stringWei Wang
Fang Chen
Hui Jiang
Ya Gao
Xuyang Yin
Dayang Chen
Hongtai Liu
Jinghui Ren
Linhua Lin
Zhiyang Hu
P2860cites workCommittee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis.Q50750814
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Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy XQ84822908
Bias of selection on human copy-number variantsQ25257186
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalitiesQ28296227
Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromesQ34452242
Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trialQ34610494
Noninvasive prenatal molecular karyotyping from maternal plasmaQ34683906
Noninvasive prenatal diagnosis of a fetal microdeletion syndromeQ35020502
Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNAQ36332125
Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal AbnormalitiesQ36473401
Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasmaQ36595101
Global perspectives on clinical adoption of NIPTQ37342219
WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme.Q37631891
Noninvasive prenatal diagnosis: past, present, and futureQ37656046
New microdeletion and microduplication syndromes: A comprehensive review.Q38207018
Advances in genetic prenatal diagnosis and screening.Q38248328
Clinical implementation of NIPT - technical and biological challengesQ38418240
Effects of Maternal and Fetal Characteristics on Cell-Free Fetal DNA Fraction in Maternal PlasmaQ40950309
Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.Q41566460
PSCC: sensitive and reliable population-scale copy number variation detection method based on low coverage sequencingQ41832330
A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencingQ45049473
Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal DiagnosisQ46945516
Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach.Q47810944
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.Q50310312
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue7
P407language of work or nameEnglishQ1860
P921main subjectwhole genome sequencingQ2068526
P304page(s)e0159233
P577publication date2016-07-14
P1433published inPLOS OneQ564954
P1476titlePerformance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA.
P478volume11

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cites work (P2860)
Q64107192Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters
Q92204938Effect quantification and value prediction of factors in noninvasive detection for specific fetal copy number variants by semiconductor sequencing
Q92899022Evaluation of non-invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort
Q61799815Factors associated with common and atypical chromosome abnormalities after positive combined first-trimester screening in Chinese women: a retrospective cohort study
Q98513871Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations
Q90219242Non-invasive prenatal screening for Emanuel syndrome
Q64945044Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencing.
Q92895469PREFACE: In silico pipeline for accurate cell-free fetal DNA fraction prediction
Q64229472Pilot study of a novel multi-functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single-gene disorder screening

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