Noninvasive Prenatal Test for β-Thalassemia and Sickle Cell Disease Using Probe Capture Enrichment and Next-Generation Sequencing of DNA in Maternal Plasma

Noninvasive prenatal testing (NIPT) of chromosomal aneuploidies based on next-generation sequencing (NGS) analysis of fetal DNA in maternal plasma is well established, but testing for autosomal recessive disorders remains challenging. NGS libraries prepared by probe capture facilitate the analysis o...

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Veröffentlicht in:	The journal of applied laboratory medicine 2022-03, Vol.7 (2), p.515-531
Hauptverfasser:	Erlich, Henry A, López-Peña, Christian, Carlberg, Katie T, Shih, Shelly, Bali, Gunmeet, Yamaguchi, Ken D, Salamon, Hugh, Das, Reena, Lal, Ashutosh, Calloway, Cassandra D
Format:	Artikel
Sprache:	eng
Schlagworte:	Anemia, Sickle Cell - diagnosis Anemia, Sickle Cell - genetics beta-Thalassemia - diagnosis beta-Thalassemia - genetics DNA - analysis DNA - genetics Female Hemoglobinopathies High-Throughput Nucleotide Sequencing Humans Pregnancy
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