Genomic Assembly, Usage, Problems and Limitations.

Grant Chrapla


Genetic knowledge is leading a frontier of research towards designing custom solutions for problems we might experience during our lives.  An organism’s genome is akin to a book, it is a publication that is uniquely them and defines what they are.  Regarding medicine, it can be assumed that common ailments have vastly complex interactions in how they are expressed in an individual.  Rare genetic disorders are usually defined with singular genetic events.  These genetic events can be as simple as a base mutation to as complex as large deletions, duplications and inversions.  After our discovery of DNA being the chemical component of inheritance in reproduction around the 1950s, an international effort known as the Human Genome Sequencing Consortium was established in the 1990s to give researchers the first draft of a human genome.  A finished genome (book) by itself means nothing to us.  Alignment of nucleic acid intermediaries such as cDNAs, mRNAs, tRNAs and sRNAs to draft genomes gives us a gene (word) count.  Manipulation of these genes could lead to observable functions (definitions).  Advanced studies try to associate gene to gene interactions in metabolic-pathways (sentences).  Developmental stages in organisms can observe differences in DNA methylation patterns (paragraphs) and histone packaging (chapters).  Our comparative studies to better understand genomes now requires increasingly large amounts of data.  Hundreds of these example datasets could be needed to increase confidence in answers we find for the questions that are asked.  Techniques to produce and process quality data needs to be refined further to reduce the time needed to research questions.

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