NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies-Reference-Cited by-同舟云学术

NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies

Published:2018-04-04 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Sauk Martin,Žilina Olga,Kurg Ants,Ustav Eva-Liina,Peters Maire,Paluoja Priit^ORCID,Roost Anne Mari,Teder Hindrek^ORCID,Palta Priit,Brison Nathalie,Vermeesch Joris R.,Krjutškov Kaarel,Salumets Andres,Kaplinski Lauris

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-23589-8.pdf

Reference16 articles.

1. Lo, Y. M. et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 62, 768–775, https://doi.org/10.1086/301800 (1998).

2. Lun, F. M. et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 54, 1664–1672, https://doi.org/10.1373/clinchem.2008.111385 (2008).

3. Bayindir, B. et al. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management. Eur J Hum Genet 23, 1286–1293, https://doi.org/10.1038/ejhg.2014.282 (2015).

4. Jiang, F. et al. Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Med Genomics 5, 57, https://doi.org/10.1186/1755-8794-5-57 (2012).

5. Azam, S. et al. An integrated SNP mining and utilization (ISMU) pipeline for next generation sequencing data. PLoS One 9, e101754, https://doi.org/10.1371/journal.pone.0101754 (2014).

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