Meanwhile, we have to cope with... this (good luck!): "Genomic data characteristics and life cycle One gene has ~3,000 base pairs, the exome has ~50 million base pairs,21 and the genome has ~3.2 billion base pairs.22 Apart from potentially being very large, an additional attribute of next-generation sequencing genomic data is that it has uneven depth of coverage, and thus, ideally it would be important to store information pertaining to the quality of the base-pair calls and which regions may have been missed entirely because coverage was too low.23 Storing such attributes further complicates the storage of raw genomic data. A way to reduce the complexity of genomic data is to process it to a set of variants or even further to a list of known pathologic variants and thus only store variants or selected variants. This substantially reduces the amount of data that must be stored. If one stores all variants for an individual’s complete genome, there are still an estimated 3–4 million variants per patient to store.24 In addition, there are times when accessing the normal (reference) variant is still important, for example, for copy-number variants (e.g., three or more copies of a normal gene) and some heterozygous conditions. Therefore, even normal variants should be stored in some cases. Additional storage would also be required if one stores the variants found in abnormal tissue, such as cancers."
From organ replacement medicine to genomic precision medicine. Documenting all the way from Organ Donation to Gene Editing: The "Creative Destruction of Medicine". Organ replacement technologies. 3D Bioprinting. Fablabs. DIY Bio. New-Gen Genome Sequencing. Gene Therapy (transplanting genes into cells, rewriting patients' DNA). MOOCs. mHealth. In Memoriam Pr. Emmanuel Andronikof, Mathematician, Steve Jobs: "Think different," and Aaron Swartz: "Access to information is a human right."
Informations sur ce blog - Mes favoris
▼
Where should genomic information be stored? In electronic health record or in... our own DNA?
Genomic information probably should not be stored in electronic health records. Shoud it be stored in... our own DNA? In artificial (engineered) DNA? The future will tell...
Meanwhile, we have to cope with... this (good luck!): "Genomic data characteristics and life cycle One gene has ~3,000 base pairs, the exome has ~50 million base pairs,21 and the genome has ~3.2 billion base pairs.22 Apart from potentially being very large, an additional attribute of next-generation sequencing genomic data is that it has uneven depth of coverage, and thus, ideally it would be important to store information pertaining to the quality of the base-pair calls and which regions may have been missed entirely because coverage was too low.23 Storing such attributes further complicates the storage of raw genomic data. A way to reduce the complexity of genomic data is to process it to a set of variants or even further to a list of known pathologic variants and thus only store variants or selected variants. This substantially reduces the amount of data that must be stored. If one stores all variants for an individual’s complete genome, there are still an estimated 3–4 million variants per patient to store.24 In addition, there are times when accessing the normal (reference) variant is still important, for example, for copy-number variants (e.g., three or more copies of a normal gene) and some heterozygous conditions. Therefore, even normal variants should be stored in some cases. Additional storage would also be required if one stores the variants found in abnormal tissue, such as cancers."
Meanwhile, we have to cope with... this (good luck!): "Genomic data characteristics and life cycle One gene has ~3,000 base pairs, the exome has ~50 million base pairs,21 and the genome has ~3.2 billion base pairs.22 Apart from potentially being very large, an additional attribute of next-generation sequencing genomic data is that it has uneven depth of coverage, and thus, ideally it would be important to store information pertaining to the quality of the base-pair calls and which regions may have been missed entirely because coverage was too low.23 Storing such attributes further complicates the storage of raw genomic data. A way to reduce the complexity of genomic data is to process it to a set of variants or even further to a list of known pathologic variants and thus only store variants or selected variants. This substantially reduces the amount of data that must be stored. If one stores all variants for an individual’s complete genome, there are still an estimated 3–4 million variants per patient to store.24 In addition, there are times when accessing the normal (reference) variant is still important, for example, for copy-number variants (e.g., three or more copies of a normal gene) and some heterozygous conditions. Therefore, even normal variants should be stored in some cases. Additional storage would also be required if one stores the variants found in abnormal tissue, such as cancers."
Aucun commentaire:
Enregistrer un commentaire