Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories

Expert Review of Molecular Diagnostics

Volumn 15, Issue 1, 2015, Pages 111-124

  Thung, Djie Tjwan ^a   Beulen, Lean ^a   Hehir Kwa, Jayne ^a   Faas, Brigitte H ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Depth of coverage; NGS; NIPT; noninvasive; prenatal; whole genome sequencing

Indexed keywords

DNA;

CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL LABORATORY; COPY NUMBER VARIATION; DNA BASE COMPOSITION; DNA ISOLATION; DNA SEQUENCE; FEMALE; GENOME ANALYSIS; HUMAN; LABORATORY AUTOMATION; LABORATORY TEST; MASSIVELY PARALLEL SEQUENCING; NON INVASIVE PROCEDURE; NONINVASIVE PRENATAL TESTING; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; REVIEW; SEQUENCE ANALYSIS; SEX CHROMOSOME; CHROMOSOME MAP; GENETIC SCREENING; HIGH THROUGHPUT SEQUENCING; MOLECULAR DIAGNOSIS; NUCLEOTIDE SEQUENCE; PREGNANCY; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARDS;

CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PRENATAL DIAGNOSIS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84919935832     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.2015.973857     Document Type: Review

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