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  2. Deletion (genetics) - Wikipedia

    en.wikipedia.org/wiki/Deletion_(genetics)

    The smallest single base deletion mutations occur by a single base flipping in the template DNA, followed by template DNA strand slippage, within the DNA polymerase active site. [ 3 ] [ 4 ] [ 5 ] Deletions can be caused by errors in chromosomal crossover during meiosis , which causes several serious genetic diseases .

  3. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.

  4. Structural variation - Wikipedia

    en.wikipedia.org/wiki/Structural_variation

    The presence of a SV is identified from discontinuous alignment to the reference genome. A gap in the read marks a deletion and in the reference marks an insertion. Read pair methods examine the length and orientation of paired-end reads from short read sequencing data. For example, read pairs further apart than expected indicate a deletion.

  5. Frameshift mutation - Wikipedia

    en.wikipedia.org/wiki/Frameshift_mutation

    Mutations in the β-hexosaminidase A (Hex A) gene are known to affect the onset of Tay-Sachs, with 78 mutations of different types being described, 67 of which are known to cause disease. Most of the mutations observed (65/78) are single base substitutions or SNPs, 11 deletions, 1 large and 10 small, and 2 insertions. 8 of the observed ...

  6. Indel - Wikipedia

    en.wikipedia.org/wiki/Indel

    For example, a common microindel which results in a frameshift causes Bloom syndrome in the Jewish or Japanese population. [3] Indels can be contrasted with a point mutation . An indel inserts or deletes nucleotides from a sequence, while a point mutation is a form of substitution that replaces one of the nucleotides without changing the ...

  7. Mutagenesis (molecular biology technique) - Wikipedia

    en.wikipedia.org/wiki/Mutagenesis_(molecular...

    Types of mutations that can be introduced by random, site-directed, combinatorial, or insertional mutagenesis. In molecular biology, mutagenesis is an important laboratory technique whereby DNA mutations are deliberately engineered to produce libraries of mutant genes, proteins, strains of bacteria, or other genetically modified organisms. The ...

  8. Single-nucleotide polymorphism - Wikipedia

    en.wikipedia.org/wiki/Single-nucleotide_polymorphism

    Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), [1] many publications [2] [3] [4] do not apply such a frequency threshold. For example, a G nucleotide present at a specific location in a reference genome may be replaced by an A in a minority

  9. List of infectious diseases - Wikipedia

    en.wikipedia.org/wiki/List_of_infectious_diseases

    This is a list of infectious diseases arranged by name, along with the infectious agents that cause them, the vaccines that can prevent or cure them when they exist and their current status. Some on the list are vaccine-preventable diseases .

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