Cargando…

Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform

OBJECTIVE: To evaluate the performance of noninvasive prenatal testing (NIPT) and NIPT-PLUS for the detection of genome-wide microdeletion and microduplication syndromes (MMSs) at different sequencing depths. The NIPT sequencing depth was 0.15X, and the data volume was 3 million reads; the NIPT-PLUS...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yang, Jiexia, Wu, Jing, Peng, Haishan, Hou, Yaping, Guo, Fangfang, Wang, Dongmei, Ouyang, Haoxin, Wang, Yixia, Yin, Aihua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Primary Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8252301/ https://www.ncbi.nlm.nih.gov/pubmed/34215332 http://dx.doi.org/10.1186/s40246-021-00332-5

Ejemplares similares

Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China
por: Yang, Jiexia, et al.
Publicado: (2021)

Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports
por: Qi, Yiming, et al.
Publicado: (2020)

A case of placental trisomy 18 mosaicism causing a false negative NIPT result
por: Yang, Jiexia, et al.
Publicado: (2017)

Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports
por: Peng, Haishan, et al.
Publicado: (2021)

Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening
por: Hou, Yaping, et al.
Publicado: (2019)

The significance of trisomy 7 mosaicism in noninvasive prenatal screening
por: Qi, Yiming, et al.
Publicado: (2019)

Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies
por: Yang, Jiexia, et al.
Publicado: (2018)

Combined fetal fraction to analyze the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18, and 21
por: Yang, Jiexia, et al.
Publicado: (2023)

Preimplantation genetic diagnosis and screening (PGD/S) using a semiconductor sequencing platform
por: Wang, Li-Ya, et al.
Publicado: (2019)

Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma
por: Wang, Xiaoyu, et al.
Publicado: (2015)

Performance of noninvasive prenatal testing for twin pregnancies in South China
por: Wang, Dongmei, et al.
Publicado: (2023)

Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA
por: Liu, Hongtai, et al.
Publicado: (2016)

Semiconductor Sequencing Analysis of Chromosomal Copy Number Variations in Spontaneous Miscarriage
por: Wang, Ming-zhu, et al.
Publicado: (2017)

Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations
por: Harasim, Thomas, et al.
Publicado: (2022)

Association between cell-free DNA fetal fraction and pregnant character: a retrospective cohort study of 27,793 maternal plasmas
por: Hou, Yaping, et al.
Publicado: (2023)

Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
por: Hatt, Lotte, et al.
Publicado: (2020)

Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences
por: Ganel, Liron, et al.
Publicado: (2021)

cfDNA deconvolution via NIPT of a pregnant woman after bone marrow transplant and donor egg IVF
por: Zhu, Jianjiang, et al.
Publicado: (2021)

A comprehensive analysis of copy number variation in a Turkish dementia cohort
por: Dehghani, Nadia, et al.
Publicado: (2021)

Computational framework for targeted high-coverage sequencing based NIPT
por: Teder, Hindrek, et al.
Publicado: (2019)

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing
por: de Ligt, Joep, et al.
Publicado: (2014)

CONY: A Bayesian procedure for detecting copy number variations from sequencing read depths
por: Wei, Yu-Chung, et al.
Publicado: (2020)

Whole genome DNA copy number changes identified by high density oligonucleotide arrays
por: Huang, Jing, et al.
Publicado: (2004)

Effect quantification and value prediction of factors in noninvasive detection for specific fetal copy number variants by semiconductor sequencing
por: Zhang, Chunhua, et al.
Publicado: (2019)

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments
por: Liu, Yichuan, et al.
Publicado: (2015)

Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platforms
por: Rao, Junhua, et al.
Publicado: (2020)

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts
por: Guyatt, Anna L., et al.
Publicado: (2019)

Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity
por: Carpenter, Danielle, et al.
Publicado: (2017)

Copy Number Variation of Circulating Tumor DNA (ctDNA) Detected Using NIPT in Neoadjuvant Chemotherapy-Treated Ovarian Cancer Patients
por: Sharbatoghli, Mina, et al.
Publicado: (2022)

ReadDepth: A Parallel R Package for Detecting Copy Number Alterations from Short Sequencing Reads
por: Miller, Christopher A., et al.
Publicado: (2011)

Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours
por: Thomas, Laura E, et al.
Publicado: (2015)

Total number of reads affects the accuracy of fetal fraction estimates in NIPT
por: Miceikaitė, Ieva, et al.
Publicado: (2021)

Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing
por: Taudien, Stefan, et al.
Publicado: (2011)

Association between copy-number alteration of +20q, −14q and −18p and cross-sensitivity to tyrosine kinase inhibitors in clear-cell renal cell carcinoma
por: Wang, Liang, et al.
Publicado: (2020)

Detection of copy number variation from array intensity and sequencing read depth using a stepwise Bayesian model
por: Zhang, Zhengdong D, et al.
Publicado: (2010)

A comprehensive performance analysis of sequence-based within-sample testing NIPT methods
por: Mokveld, Tom, et al.
Publicado: (2023)

Independent of ErbB1 gene copy number, EGF stimulates migration but is not associated with cell proliferation in non-small cell lung cancer
por: Lauand, Camila, et al.
Publicado: (2013)

Copy number of 8q24.3 drives HSF1 expression and patient outcome in cancer: an individual patient data meta-analysis
por: Brusselaers, Nele, et al.
Publicado: (2019)

The standardised copy of pentagons test
por: Fountoulakis, Konstantinos N, et al.
Publicado: (2011)

Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples
por: Paluoja, Priit, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_c2qiv03c6uffrvb3esdri65jif