Journal of Proteomics & Bioinformatics
Open Access
ISSN: 0974-276X
ISSN: 0974-276X
Schiller International University, Heidelberg Campus, Zollhofgarten 1, 69115 Heidelberg, Germany
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.. View More»