Short read (next-generation) sequencing: A tutorial with cardiomyopathy diagnostics as an exemplar

Circulation: Cardiovascular Genetics

Volumn 6, Issue 4, 2013, Pages 427-434

  Punetha, Jaya ^a,b   Hoffman, Eric P ^a,b  

^a GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; CONNECTIN; GENOMIC DNA; MITOCHONDRIAL DNA;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARDIOMYOPATHY; CONGESTIVE CARDIOMYOPATHY; COPY NUMBER VARIATION; DNA SEQUENCE; EXOME; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; HUMAN; INDEL MUTATION; MOLECULAR DIAGNOSTICS; NEXT GENERATION SEQUENCING; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

CARDIOMYOPATHIES; CARDIOMYOPATHY, DILATED; CONNECTIN; EXOME; GENETICS; HUMANS; MASSIVELY-PARALLEL SEQUENCING;

CARDIOMYOPATHIES; CONNECTIN; DNA COPY NUMBER VARIATIONS; DYSTROPHIN; EXOME; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION;

EID: 84884516867     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.113.000085     Document Type: Article

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