NIPT reference library

Academic studies and papers associated with NIPD and NIPT

Whole fetal genome studies

2013

Lo YM. Non-invasive prenatal testing using massively parallel sequencing of maternal plasma DNA: from molecular karyotyping to fetal whole-genome sequencing. Reprod Biomed Online. 2013 Sep 7. doi:pii: S1472-6483(13)00466-5. 10.1016/j.rbmo.2013.08.008. [Epub ahead of print] PubMed PMID: 24140310. http://www.ncbi.nlm.nih.gov/pubmed/?term=24140310

Chen S, Lau TK, Zhang C, Xu C, Xu Z, Hu P, Xu J, Huang H, Pan L, Jiang F, ChenF, Pan X, Xie W, Liu P, Li X, Zhang L, Li S, Li Y, Xu X, Wang W, Wang J, Jiang H, Zhang X. A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat Diagn. 2013 Jun;33(6):584-90.  http://www.ncbi.nlm.nih.gov/pubmed/?term=23592436

Papageorgiou EA, Patsalis PC. Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery. BMC Med. 2013 Feb 27;11:56.http://www.ncbi.nlm.nih.gov/pubmed/23445999

Chen S, Ge H, Wang X, Pan X, Yao X, Li X, Zhang C, Chen F, Jiang F, Li P, Jiang H, Zheng H, Zhang L, Zhao L, Wang W, Li S, Wang J, Wang J, Yang H, Li Y, Zhang X. Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing. Genome Med. 2013 Feb 27;5(2):18.http://www.ncbi.nlm.nih.gov/pubmed/23445748

Hui L, Bianchi DW. Recent advances in the prenatal interrogation of the human fetal genome. Trends Genet. 2013 29:84-91. http://www.ncbi.nlm.nih.gov/pubmed/23158400

2012

Fan HC, Gu W, Wang J, Blumenfeld YJ, El-Sayed YY, Quake SR. Non-invasive prenatal measurement of the fetal genome. Nature. 2012 487(7407):320-4. http://www.ncbi.nlm.nih.gov/pubmed/22763444

Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Gammill HS, Rubens CE, Santillan DA, Murray JC, Tabor HK, Bamshad MJ, Eichler EE, Shendure J. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med. 2012; 4:137ra76. http://www.ncbi.nlm.nih.gov/pubmed/22674554

2010

Lo DYM, Chan KCA, Sun H, Chen EZ, Jiang P, Lun FMF, Zheng YW, Leung TY, Lau TK, Cantor CR, Chiu RWK. Maternal plasma DNA sequencing reveals the genome-wide genetics and mutational profile of the fetus. Sci Transl Med. 2010 8;2:61ra91. http://www.ncbi.nlm.nih.gov/pubmed/21148127