Large gene panel sequencing in clinical diagnostics—results from 501 consecutive cases

Clinical Genetics

Volumn 93, Issue 1, 2018, Pages 78-83

  Pajusalu, S ^a,b   Kahre, T ^a,b   Roomere, H ^a   Murumets, U ^a   Roht, L ^a   Simenson, K ^a   Reimand, T ^a,b   Ounap K ^a,b  

^a TARTU UNIVERSITY HOSPITAL   (Estonia)

^b UNIVERSITY OF TARTU   (Estonia)

Author keywords

clinical genetic diagnostics; DNA copy number variations; high throughput nucleotide sequencing; large gene panel sequencing; whole exome sequencing

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; COPY NUMBER VARIATION; DANON DISEASE; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HAPPY PUPPET SYNDROME; HETEROZYGOSITY; HUMAN; INDEL MUTATION; LIVER DISEASE; MAJOR CLINICAL STUDY; MALE; PATIENT REFERRAL; PRIORITY JOURNAL; SANGER SEQUENCING; SEX DETERMINATION; SINGLE NUCLEOTIDE POLYMORPHISM; TURNER SYNDROME; EXOME; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; MUTATION; NEWBORN; PRESCHOOL CHILD; PROCEDURES; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; YOUNG ADULT;

EID: 85027676631     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.13031     Document Type: Article

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