Biomedical large data -DNA element functions and identification
Genetic vs epigenetic
GENETICS Genetics
DNA Code: 64 triplets of nucleotides encode for 20 amino acids and 3 stop codons.
EPIGENETICS epigenetic
RNA Code: Non-coding RNA, miRNA, Alternative Splicing
CpG Code: DNA Methylation
Histone Code: Histone Modifications, Histone Variants
Nucleosome Code: Collocation of Nucleosomes
HSs Code: Profile of DNase I Hypersensitive Sites
Trans Code: Binding and Interaction Profiles of TFs
Cis Code: Distributions & Colocalizations of Regulatory Motifs
Allele Code: Imprinting, same exact gene may act differently depending on whether they are inherited from the paternal or maternal parent
DNA methylation DNA methylation, and more in CpG island.
Increased methylation, of p53 is decreased, the tumor susceptibility.
Genomic imprinting depending on maternal or paternal. For example, methylation imprint is not written properly, resulting in normal growth and development can not be completed.
Reversible chemical modification that regulate the flow（DNA-RNA-protein）
A set of two enzymes: EG : methylases, demethylases
Nucleosome structure, DNA wound on histones, winding DNA length substantially constant, but nucleosomes in disease states is small, it is critical measure DNA length.
Nucleosome positioning use of autoradiographic techniques exit on gel electrophoresis when the developing ladder, then the proof nucleosomes separated.
After positioning, to find DNA in highly sensitive sites, which site comprises Dan 200KB , bare common mutation, deletion and nucleosome hypomethylation.
Stable four-piece red blood cells, which carry oxygen to help it complete. Of hemoglobin, heme iron and configuration.
Globin each developmental stage with an open gene and silicone gene expression are not the same, so often as the transcriptome model.
Transcription factors and co-factors , also known as trans original transcription. As opposed to when the original transcript cis, located gene upstream, is a regulatory gene sequences on the same chromosome. Vary during transcription, post-transcriptional ring enrichment.
Eukaryotic transcriptional regulation distal promoter proximal Enhancer , while enriched transcription factors, to form a ring. The compositions may be obtained transcription plurality Transcription Factory :
The presentation of transcriptomics.
Histone terminus modification PTM range, it is proposed histone code, distinguishing between the access codes is the location and manner modifications.
Chromosome conformation chromosome three-dimensional structure will also affect the phenotype.
Sequence Technology
II sequence beginning "water in oil + pyrosequencing" technology, the Illumina improvements on a solid support
AB : four-color fluorescence as a sequence read twice, so high accuracy. Turning now to health care, China is the second-generation sequencing for clinical use.
Representative three generations is PacBio , characterized by a rolling circle sequencing, single molecule of output segment length.
Whole-genome sequencing is global, targeted sequencing research is based on partial sequencing.