Next generation sequencing of SNPs for non-invasive prenatal diagnosis: Challenges and feasibility as illustrated by an application to β-thalassaemia

European Journal of Human Genetics

Volumn 21, Issue 12, 2013, Pages 1403-1410

  Papasavva, Thessalia ^a   Van Ijcken, Wilfred F J ^b   Kockx, Christel E M ^b   Van Den Hout, Mirjam C G N ^b   Kountouris, Petros ^a   Kythreotis, Loukas ^c   Kalogirou, Eleni ^c   Grosveld, Frank G ^b   Kleanthous, Marina ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c Makarios III Hospital   (Cyprus)

Author keywords

thalassaemia; maternal plasma; next generation sequencing; NIPD; SNPs; targeted sequencing

Indexed keywords

DNA; HEMOGLOBIN BETA CHAIN;

ALLELE; ARTICLE; BETA THALASSEMIA; FEMALE; FETUS; GENE LOCUS; GENE SEQUENCE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; MALE; MATERNAL PLASMA; NEXT GENERATION SEQUENCING; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; BETA-THALASSEMIA; FEMALE; HAPLOTYPES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84887624460     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.47     Document Type: Article

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