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Journal of Proteomics & Bioinformatics

Journal of Proteomics & Bioinformatics
Open Access

ISSN: 0974-276X

+1 (920)541-6085

Abhishek Narain Singh

Schiller International University, Heidelberg Campus, Zollhofgarten 1, 69115 Heidelberg, Germany

Publications
  • Research Article   
    The Unmasking of 'Mitochondrial Adam' and Structural Variants Larger thanPoint Mutations as Stronger Candidates for Traits, Disease Phenotype and Sex Determination
    Author(s): Abhishek Narain Singh*

    Background: Structural Variations, SVs, in a genome can be linked to a disease or characteristic phenotype. The variations come in many types and it is a challenge, not only determining the variations accurately, but also conducting the downstream statistical and analytical procedure. Method: Structural variations, SVs, with size 1 base-pair to 1000s of base-pairs with their precise breakpoints and single-nucleotide polymorphisms, SNPs, were determined for members of a family. The genome was assembled using optimal metrics of ABySS and SOAP de novo assembly tools using paired-end DNA sequence. Results: An interesting discovery was the mitochondrial DNA could have paternal leakage of inheritance or that the mutations could be high from maternal inheritance. It is also discovered that the mitochondrial D.. Read More»

    Abstract PDF

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