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You can search by traits (mostly diseases) for genome wide association, in these databases: Gwasdb2 Human genome variation Database: it also links to a Copy number Variation (CNV) database.


Our germ cells are haploid, while our somatic cells are diploid. The diploid cells of a child result from the fusion of a paternal haploid germ cell and a maternal haploid germ cell. When these germ cells are generated during meiosis, the paired diploid chromosomes of each parent (which they in turn received one of from each parent) are randomly segregated ...


The clearest example of a Mendelian exception (in my opinion) are lethal alleles. In your example, let's say that the $YY$ phenotype causes a fatal phenotype in utero (in humans, Achondroplasia is fatal for homozygotes). Your Punnett square might instead look something like this: $ \begin{equation} \begin{matrix} & O & Y \\ \ &\_ & \_ \\ ...


Lets state what a Mutation is first. Mutation: A mutation is any change in an organism's genetic sequence which varies from that of the wild-type reference sequence (hg19/GrCH37 from 2009 or hg38/GrCH38 from 2013, which are the most current genome assembly). Single Nucleotide Polymorphisms (SNPs): These are any single nucleotide base mutations which have ...


HLA-B*1502 is not a SNP ID but rather, a name of an allele of HLA-B. This allele is made up of multiple mutations which can be found here.


This was too long for a comment. Be careful when reading media as they tend to exaggerate. That Abzhanov paper is interesting; it will be better when it's published and the figures released. He does a lot of evo-devo work surrounding beak development. What they did in this paper was to inhibit in chick embryos two signalling pathways (which are actually ...

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