A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants

Cold Spring Harbor Molecular Case Studies

Volumn 5, Issue 2, 2019, Pages

  Ji, Jianling ^a,b   Shen, Lishuang ^a   Bootwalla, Moiz ^a   Quindipan, Catherine ^a   Tatarinova, Tatiana ^c   Maglinte, Dennis T ^a   Buckley, Jonathan ^a,b   Raca, Gordana ^a,b   Saitta, Sulagna C ^a,b   Biegel, Jaclyn A ^a,b   Gai, Xiaowu ^a,b  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c UNIVERSITY OF LA VERNE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHECKPOINT KINASE 2; PYRIN; RAD50 PROTEIN; TRANSCRIPTIONAL REGULATOR ATRX;

ANK2 GENE; ARTICLE; ATRX GENE; AUTISM; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BCL11A GENE; BPTF GENE; CANCER RISK; CANCER SUSCEPTIBILITY; CHEK2 GENE; DEVELOPMENTAL DELAY; DIAGNOSTIC VALUE; DNAJC21 GENE; FOXN1 GENE; GENE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; IMMUNOPATHOLOGY; MALIGNANT NEOPLASM; MEFV GENE; MICROARRAY ANALYSIS; MOLECULAR DIAGNOSIS; MYOC GENE; PHENOTYPE; PLAA GENE; POPULATION RESEARCH; RAD50 GENE; RNA SEQUENCE; WHOLE EXOME SEQUENCING; ADOLESCENT; CHILD; EARLY DIAGNOSIS; FEMALE; GENETIC PREDISPOSITION; GENETICS; INFANT; MALE; NEOPLASM; NEWBORN; PRESCHOOL CHILD; PROCEDURES; SENSITIVITY AND SPECIFICITY; TIME FACTOR; WORKFLOW; YOUNG ADULT;

ADOLESCENT; AUTISM SPECTRUM DISORDER; CHILD; CHILD, PRESCHOOL; EARLY DIAGNOSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNE SYSTEM DISEASES; INFANT; INFANT, NEWBORN; MALE; NEOPLASMS; SENSITIVITY AND SPECIFICITY; TIME FACTORS; WHOLE EXOME SEQUENCING; WORKFLOW; YOUNG ADULT;

EID: 85064199735     PISSN: None     EISSN: 23732873     Source Type: Journal    
DOI: 10.1101/mcs.a003756     Document Type: Article

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