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- W1512227976 abstract "In the search for genetic mutations susceptible to human diseases, researchers take either genome-wide approaches or candidate gene approaches [1]. Traditional techniques in both approaches, such as chromosomal scan on the pedigree data and case-control design for a small number of genes of interest, however, have limitations in either achieving high resolution to identify specific genes, or obtaining whole genome coverage. Discoveries from pedigree linkage usually pointed to one or a few chromosomal regions related to the phenotype of interest, and these regions generally harbor many (perhaps hundreds) of genes, which rendered pinpointing actual genetic causes a daunting task. On the other hand, association studies typically focused on a couple of genes, some of which may participate in the same pathway, and the number of interrogated variants was always experimentally manageable. However, technical advances have brought high-throughput approaches within the reach of more and more scientists, increasing the volume of variants that researchers can interrogate by genotyping array and next-generation sequencing techniques at an exponential pace. A recent dbSNP build (build 135), a large public-domain database of single-nucleotide polymorphisms (SNPs), hosts more than 41.7 million validated human mutations, and with ongoing large-scale efforts such as the 1000 Genomes Project [2], that number is poised to grow significantly larger." @default.
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- W1512227976 date "2012-10-12" @default.
- W1512227976 modified "2023-09-27" @default.
- W1512227976 title "Bioinformatics Approaches to the Functional Profiling of Genetic Variants" @default.
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- W1512227976 doi "https://doi.org/10.5772/45900" @default.
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