Bioinformatics for biomedical science and clinical by Kung-Hao Liang

By Kung-Hao Liang

Dr. King-Hao Liang presents biomedical researchers and scholars with a state of the art review of the applying of bioinformatics to biomedical technological know-how and medical functions. modern biomedical and scientific researches are continuously driven ahead through the swift development of assorted excessive throughput applied sciences on all of the DNA, RNA and protein degrees. those applied sciences comprise, for instance, the complicated genome sequencing know-how, microarray, ChIP-Chip and mass spectrometry. they permit researchers to behavior investigations on human health and wellbeing and illness in a scientific, genome-wide scale.

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E. single copy) genomes, one from the father and one from the mother. When we perform conventional genotyping, we usually obtain diploid information, without distinguishing which is from the father and which is from the mother. For example, the “C vs. T” SNP of a person could be one of three diplotypes: CC, CT and TT. A haplotype block is a chromosomal region between two recombination hotspots. Haplotypes are alleles physically residing in a haplotype block of the same haploid chromosome, also called the phase of the genome, as opposed to the “unphased” diplotypes.

The concept of using adjacent variants to serve as surrogates can alleviate the burden of finding the exact causative variants directly. We can first detect the surrogates, then scrutinize the proximity region of the surrogate to find the real causative variant. In practice, this is realized by the selection of representative SNPs (known as tag SNPs) in the study design phase, assuming the true causative variant is in LD with the tag SNPs. 1). , 2004). LDSelect can ensure the selected tag SNPs have relatively low LD between each other, thereby minimizing the number of SNPs while maximizing their representativity.

Recent studies on human genome analysis have revealed a common class of germline variants, the CNVs that belong to a more general class called structural variants. The genome is thought to be diploid where one copy is from the father and one from the mother. g. g. 1 or 0 copies) numbers of copies, and are called CNVs. These are common, mostly harmless variants, although some have been linked to disease. The shortest length of a CNV is 1 kb based on its definition, yet many of them are longer than 100 kb.

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Bioinformatics for biomedical science and clinical by Kung-Hao Liang
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