Population Genomics I ( Pardis Sabeti ) Scribed by Arjun
نویسنده
چکیده
Polymorphisms are DNA variations between different individuals of the same species. There are several types of polymorphisms, including single nucleotide polymorphisms (SNPs), variable number tandem repeats, insertions and deletions, large-scale polymorphisms, and copy number variants. In addition to helping explain the genetic basis of our diversity, understanding polymorphisms is also medically relevant. These changes, when they affect critical genes, can result in severe clinical outcomes like sickle cell anemia (SNP), Huntington’s disease (triplet repeat), and cystic fibrosis (deletion).
منابع مشابه
Fall 2008 6 . 047 / 6 . 878 Lecture 13 Population Genomics II : Pardis Sabeti Scribe : Clara Chan
Recall Mendel’s Law of Independent Assortment, which states that allele pairs from different loci separate independently during the formation of gametes. For example if we have a population of individuals such that at a given locus we find 80% A and 20% G, while at a second locus of interest we find 50% C and 50% T, then independent assortment would imply that the corresponding haplotype freque...
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