Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

Genetics in Medicine

Volumn 16, Issue 12, 2014, Pages 962-971

  Griffin, Helen R ^a   Pyle, Angela ^a   Blakely, Emma L ^a   Alston, Charlotte L ^a   Duff, Jennifer ^a   Hudson, Gavin ^a   Horvath, Rita ^a   Wilson, Ian J ^a   Santibanez Koref, Mauro ^a   Taylor, Robert W ^a   Chinnery, Patrick F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

exome; mitochondrial disorders; mitochondrial DNA; point mutation; sequencing

Indexed keywords

DNA POLYMERASE; GENOMIC DNA; MITOCHONDRIAL DNA; DNA;

ARTICLE; CAPTURE KIT; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; EXOME; GENE FREQUENCY; GENE TARGETING; GENETIC VARIABILITY; HETEROPLASMY; HUMAN; HUMAN CELL; HUMAN GENOME; HUMAN TISSUE; MITOCHONDRIAL GENOME; MITOCHONDRIAL HAPLOGROUP; MOLECULAR DIAGNOSTICS; POINT MUTATION; PYROSEQUENCING; QUALITY CONTROL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; BIOLOGY; CELL NUCLEUS; CHROMOSOME MAP; GENETICS; GENOME; LABORATORY DIAGNOSIS; METABOLISM; MITOCHONDRION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROCEDURES;

CELL NUCLEUS; CHROMOSOME MAPPING; COMPUTATIONAL BIOLOGY; DNA; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; EXOME; FALSE POSITIVE REACTIONS; GENOME; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84923774187     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.66     Document Type: Article

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