Application of risk score analysis to low-coverage whole genome sequencing data for the noninvasive detection of trisomy 21, trisomy 18, and trisomy 13

Prenatal Diagnosis

Volumn 36, Issue 1, 2016, Pages 56-62

  Tynan, J A ^a   Kim, S K ^a   Mazloom, A R ^a   Zhao, C ^a   Mclennan, G ^a   Tim, R ^a   Liu, L ^a   Hannum, G ^a   Hull, A ^b   Bombard, A T ^a,b   Oeth, P ^a   Burcham, T ^a   van den Boom, D ^a   Ehrich, M ^a  

^a SEQUENOM INC   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; ADULT; ARTICLE; CELL FREE SYSTEM; DNA EXTRACTION; FAMILY HISTORY; FETUS; GENOME ANALYSIS; HIGH RISK PATIENT; HUMAN; KARYOTYPE; LOW RISK PATIENT; MAJOR CLINICAL STUDY; MATERNAL AGE; MATERNAL PLASMA; NON INVASIVE PROCEDURE; PREGNANCY OUTCOME; PRIORITY JOURNAL; RISK ASSESSMENT; SEX DETERMINATION; TRISOMY 13; TRISOMY 18; TRISOMY 21; ULTRASOUND; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME DISORDERS; DECISION SUPPORT SYSTEM; DNA SEQUENCE; DOWN SYNDROME; FEMALE; FETUS ECHOGRAPHY; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MALE; MATERNAL SERUM SCREENING TEST; MIDDLE AGED; PREGNANCY; PROCEDURES; RETROSPECTIVE STUDY; RISK FACTOR; SENSITIVITY AND SPECIFICITY; TRISOMY;

ADULT; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; DECISION SUPPORT TECHNIQUES; DOWN SYNDROME; FEMALE; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MATERNAL AGE; MATERNAL SERUM SCREENING TESTS; MIDDLE AGED; PREGNANCY; RETROSPECTIVE STUDIES; RISK ASSESSMENT; RISK FACTORS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; TRISOMY; ULTRASONOGRAPHY, PRENATAL;

EID: 84956674299     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4712     Document Type: Article

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