mit-o-matic: A comprehensive computational pipeline for clinical evaluation of mitochondrial variations from next-generation sequencing datasets

Human Mutation

Volumn 36, Issue 4, 2015, Pages 419-424

  Vellarikkal, Shamsudheen Karuthedath ^a,d   Dhiman, Heena ^a   Joshi, Kandarp ^b,d   Hasija, Yasha ^c   Sivasubbu, Sridhar ^a,d   Scaria, Vinod ^a,d  

^a CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^b NATIONAL CHEMICAL LABORATORY   (India)

^c DELHI TECHNOLOGICAL UNIVERSITY   (India)

^d ACADEMY OF SCIENTIFIC AND INNOVATIVE RESEARCH ACSIR   (India)

Author keywords

Haplogroup; Heteroplasmy; Mitochondria; Next generation sequencing; Variation

Indexed keywords

MITOCHONDRIAL DNA;

ALLELE; ARTICLE; AUTOMATION; BLOOD SAMPLING; CLINICAL ASSESSMENT TOOL; CLINICAL EVALUATION; CLINICAL STUDY; COMPUTER PROGRAM; CORRELATIONAL STUDY; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA ISOLATION; EXTRACHROMOSOMAL INHERITANCE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROPLASMY; HUMAN; LEIGH DISEASE; MIT O MATIC; MITOCHONDRIAL GENETICS; MITOCHONDRIAL GENOME; MITOCHONDRIAL HAPLOGROUP; MUTATION RATE; NEXT GENERATION SEQUENCING; ONLINE SYSTEM; PRIORITY JOURNAL; BIOLOGY; DNA SEQUENCE; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; MITOCHONDRIAL DISEASES; MITOCHONDRION; MOLECULAR GENETICS; PROCEDURES;

COMPUTATIONAL BIOLOGY; GENETIC VARIATION; GENOME, MITOCHONDRIAL; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE ANNOTATION; SEQUENCE ANALYSIS, DNA; SOFTWARE;

EID: 84925862580     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22767     Document Type: Article

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