Long-read genome sequencing identifies causal structural variation in a Mendelian disease

Genetics in Medicine

Volumn 20, Issue 1, 2018, Pages 159-163

  Merker, Jason D ^a,b   Wenger, Aaron M ^c   Sneddon, Tam ^b   Grove, Megan ^b   Zappala, Zachary ^a,d   Fresard, Laure ^a   Waggott, Daryl ^a,e   Utiramerur, Sowmi ^b   Hou, Yanli ^a   Smith, Kevin S ^a   Montgomery, Stephen B ^a,d   Wheeler, Matthew ^a,e   Buchan, Jillian G ^a,b   Lambert, Christine C ^c   Eng, Kevin S ^c   Hickey, Luke ^c   Korlach, Jonas ^c   Ford, James ^a,d,f   Ashley, Euan A ^a,b,d,e  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Stanford California and Cofounder   (United States)

^c PACIFIC BIOSCIENCES   (United States)

^d STANFORD UNIVERSITY   (United States)

^e STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^f STANFORD CANCER INSTITUTE   (United States)

Author keywords

Carney complex; long read sequencing; PacBio; PRKAR1A; structural variant

Indexed keywords

ANTICOAGULANT AGENT; CYCLIC AMP DEPENDENT PROTEIN KINASE REGULATORY SUBUNIT IALPHA; PRKAR1A PROTEIN, HUMAN;

ACROMEGALY; ADOLESCENT; ADRENAL CORTEX ADENOMA; ADULT; ANDROBLASTOMA; ARTICLE; ASIAN; CANCER RECURRENCE; CANCER SURGERY; CARNEY COMPLEX; CASE REPORT; CEREBROVASCULAR ACCIDENT; CHILD; CLINICAL ARTICLE; CONSERVATIVE TREATMENT; CORRELATIONAL STUDY; CUSHING SYNDROME; ECHOGRAPHY; EXON; GENE; GENE DUPLICATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE INSERTION; GENE SEQUENCE; GENE STRUCTURE; GENETIC CODE; GENETIC VARIATION; HEART ATRIUM MYXOMA; HEART MURMUR; HEART MYXOMA; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; HISPANIC; HUMAN; HYPOPHYSIS TUMOR; MALE; MULTIPLE CANCER; ORCHIECTOMY; PRKAR1A GENE; RNA SEQUENCE; SANGER SEQUENCING; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TESTIS TUMOR; DNA SEQUENCE; ECHOCARDIOGRAPHY; GENE DELETION; GENETIC ASSOCIATION STUDY; GENETIC DISORDER; GENETIC PREDISPOSITION; GENETICS; GENOMICS; HUMAN GENOME; PHENOTYPE; PROCEDURES;

CHILD; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; ECHOCARDIOGRAPHY; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME, HUMAN; GENOMICS; HUMANS; MALE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 85040456401     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.86     Document Type: Article

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