Comparison of two high-throughput semiconductor chip sequencing platforms in noninvasive prenatal testing for Down syndrome in early pregnancy

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Comparison of two high-throughput semiconductor chip sequencing platforms in noninvasive prenatal testing for Down syndrome in early pregnancy is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1008776940
P356DOI10.1186/S12920-016-0182-9
P8608Fatcat IDrelease_32jk4dogj5cdhfpjtuwzg56wpe
P932PMC publication ID4851803
P698PubMed publication ID27129388
P5875ResearchGate publication ID301733555

P50authorJong BhakQ22973876
P2093author name stringSunghoon Park
Kyudong Han
Hee Jae Joo
Sunshin Kim
Hongliang Chen
Byung Chul Kim
HeeJung Jung
Hwanjong Kwak
Hyungsik Chu
JeongSub Kwon
Min Gyun Kim
SeungJae Lee
Sung Hee Han
P2860cites workFetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results.Q39024055
Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18.Q40028555
Screening advances and diagnostic choice: the problem of residual riskQ44592486
Size distributions of maternal and fetal DNA in maternal plasma.Q47432593
Impact of introducing a national policy for prenatal Down syndrome screening on the diagnostic invasive procedure rate in EnglandQ50110415
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.Q51349861
Comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection.Q51514162
Presence of fetal DNA in maternal plasma and serumQ57075132
No evidence of fetal DNA persistence in maternal plasma after pregnancyQ58008264
Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18Q61847821
Risk assessment of amniocentesis between 11 and 15 weeks: comparison to later amniocentesis controlsQ71683023
Chorionic villus sampling by biopsy forceps. Results of 1580 procedures from a single centreQ71708255
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical settingQ83395075
Maternal source of false-positive fetal sex chromosome aneuploidy in noninvasive prenatal testingQ86493660
Ultrafast and memory-efficient alignment of short DNA sequences to the human genomeQ21183894
A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencersQ21266698
Update on Procedure-Related Risks for Prenatal Diagnosis TechniquesQ22241937
ACOG Practice Bulletin No. 77: Screening for Fetal Chromosomal AbnormalitiesQ22242787
DNA Sequencing versus Standard Prenatal Aneuploidy ScreeningQ22250872
Fast and accurate short read alignment with Burrows-Wheeler transformQ24653853
Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single centerQ27007785
SOAP2: an improved ultrafast tool for short read alignmentQ28247469
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencingQ33665399
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation studyQ34029044
Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasmaQ34336915
The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platformQ34374066
Rapid clearance of fetal DNA from maternal plasmaQ34388637
Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidyQ34567793
Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testingQ35032051
Performance comparison between rapid sequencing platforms for ultra-low coverage sequencing strategyQ35126522
The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencingQ36042292
Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US populationQ37089135
Screening for fetal aneuploidies at 11 to 13 weeksQ37826399
Non-invasive prenatal testing for aneuploidy: current status and future prospectsQ38114375
P433issue1
P921main subjectsemiconductorQ11456
Down syndromeQ47715
P304page(s)22
P577publication date2016-04-30
P1433published inBMC Medical GenomicsQ15754662
P1476titleComparison of two high-throughput semiconductor chip sequencing platforms in noninvasive prenatal testing for Down syndrome in early pregnancy
P478volume9

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cites work (P2860)
Q30234867Analysis of Cell-Free DNA in Maternal Blood in Screening For Aneuploidies: Updated Meta-Analysis.
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.
Q90259969Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing

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