Open source non-invasive prenatal testing platform and its performance in a public health laboratory.

scientific article published on 30 March 2016

Open source non-invasive prenatal testing platform and its performance in a public health laboratory. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/PD.4819
P698PubMed publication ID27027563

P50authorAnn TaborQ55362953
Peter JohansenQ57694660
P2093author name stringMorten Duno
Susanne Kjaergaard
Caroline B Miltoft
Stine R Richter
Marie Balslev-Harder
P2860cites workThe Sequence Alignment/Map format and SAMtoolsQ27860966
A copy number variation map of the human genomeQ28256361
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencingQ33665399
Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing.Q33767643
High resolution size analysis of fetal DNA in the urine of pregnant women by paired-end massively parallel sequencingQ34464967
NGSUtils: a software suite for analyzing and manipulating next-generation sequencing datasets.Q34546632
Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidyQ34567793
Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study.Q36990581
Commercial landscape of noninvasive prenatal testing in the United StatesQ37504505
WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme.Q37631891
Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidiesQ38101277
Adverse perinatal outcomes are more frequent in pregnancies with a low fetal fraction result on noninvasive prenatal testingQ40966521
Non-invasive fetal sex determination by maternal plasma sequencing and application in X-linked disorder counselingQ44377059
Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasmaQ46170290
Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencingQ46816545
Size distributions of maternal and fetal DNA in maternal plasma.Q47432593
UK NHS pilot study on cell-free DNA testing in screening for fetal trisomies: factors affecting uptake.Q50624096
Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma.Q51012348
Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts.Q51025463
Comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection.Q51514162
Presence of fetal DNA in maternal plasma and serumQ57075132
Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cellsQ57079533
P433issue6
P921main subjectopen-source softwareQ1130645
P304page(s)530-536
P577publication date2016-04-24
P1433published inPrenatal DiagnosisQ15760059
P1476titleOpen source non-invasive prenatal testing platform and its performance in a public health laboratory
P478volume36

Reverse relations

cites work (P2860)
Q48097049Correlation between Z score, fetal fraction, and sequencing reads in non-invasive prenatal testing
Q47308150Cost-effective and accurate method of measuring fetal fraction using SNP imputation
Q47618331Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.
Q60044395Improving women's knowledge about prenatal screening in the era of non-invasive prenatal testing for Down syndrome - development and acceptability of a low literacy decision aid
Q55438251Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.
Q38778126Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy.
Q90259969Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing
Q38661271Systematic review and meta-analysis of non-invasive prenatal DNA testing for trisomy 21: implications for implementation in China
Q48323743The length of Y-chromosomal sequence reads in noninvasive prenatal testing reflect allogeneic bone marrow transplant

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