Methods and systems to perform genetically variant protein analysis, and related marker genetic protein variations and databases

A method to perform genetic analysis of a sample of a biological organism, the method comprising

• preparing the sample to obtain a processed sample comprising solubilized proteins;
• fractionating the processed sample to obtain a solubilized protein fraction comprising the solubilized proteins from the sample;
• digesting the solubilized protein fraction from the sample to obtain digested peptides from the sample;
• fractionating the digested peptides to obtain fractionated digested peptides from the digested solubilized proteins from the sample;
• and
• detecting a marker genetic variation of the fractionated digested peptides from the sample through proteomic analysis;
• wherein the method comprises at least one of:
• i) performing the preparing the sample by a method comprising applying to the sample an energy field resulting in an increased thermodynamic or total energy of the sample to obtain a processed sample comprising solubilized proteins;
• ii) performing the detecting a marker genetic variation by a first detecting method comprising
• providing a marker mass spectrum of a marker peptide comprising a marker genetic protein variation corresponding to the marker genetic protein variation;
• performing mass spectrometry of a digested peptide of the biological sample to obtain a mass spectrum of each of the digested peptide;
• and
• comparing the mass spectrum of the digested peptide with the marker mass spectrum of the marker peptide comprising the marker genetic protein variation, to detect the genetic protein variation in the biological sample, and
• iii) performing the detecting a marker genetic variation by a second detecting method comprising
• detecting a genetic protein variation in the solubilized proteins from the sample by performing a proteomic analysis of the solubilized protein fraction;
• detecting a genomic variation of the nuclear and/or mitochondrial genome by performing a genetic analysis of a solubilized DNA fraction of the sample;
• and
• comparing the detected genetic protein variation and/or the detected genomic variation with a marker genetic protein variation and/or of a marker genomic variation respectively from a marker genetic variation database system comprising a marker genetic protein variation and/or a genomic marker variation validated to be detectable in the sample.