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  2. Preimplantation genetic diagnosis - Wikipedia

    en.wikipedia.org/wiki/Preimplantation_genetic...

    It was found that PZD led to a significantly higher rate of pregnancy (40.7% vs 15.4%), ongoing pregnancy (35.6% vs 11.5%), and implantation (18.1% vs 5.7%) than ZD. This suggests that using the mechanical method of PZD in blastomere biopsies for preimplantation genetic diagnosis may be more proficient than using the chemical method of ZD.

  3. Preimplantation genetic haplotyping - Wikipedia

    en.wikipedia.org/wiki/Preimplantation_Genetic_Ha...

    Once a panel of associated genetic markers has been established for a particular disease it can be used for all carriers of that disease. [6] In contrast, since even a monogenic disease can be caused by many different mutations within the affected gene, conventional PGD methods based on finding a specific mutation would require mutation-specific tests.

  4. Noninvasive prenatal testing - Wikipedia

    en.wikipedia.org/wiki/Noninvasive_prenatal_testing

    The NIPT test does not put the mother or the fetus in any type of danger compared to the other invasive tests that are available, making it the safest option for prenatal testing. Studies have found that the in the instance of detecting Trisomy 21 has a reliability value of 99.2%, which makes NIPT more reliable than other tests than are ...

  5. Genotyping - Wikipedia

    en.wikipedia.org/wiki/Genotyping

    Genotyping is the process of determining differences in the genetic make-up of an individual by examining the individual's DNA sequence using biological assays and comparing it to another individual's sequence or a reference sequence.

  6. Watterson estimator - Wikipedia

    en.wikipedia.org/wiki/Watterson_estimator

    =, [3] where is the effective population size and is the per-generation mutation rate of the population of interest (Watterson (1975)). The assumptions made are that there is a sample of n {\displaystyle n} haploid individuals from the population of interest, that there are infinitely many sites capable of varying (so that mutations never ...

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  8. Kompetitive allele specific PCR - Wikipedia

    en.wikipedia.org/wiki/Kompetitive_allele...

    A minimum of 5-10 ng of the extracted DNA sample is required for the method to function properly. The DNA sample is purified by adding a mixture of chemicals to the buffer solution. [ 2 ] In the first round of PCR, a KASP primer mix that contains the two allele-specific forward primers and the single reverse primer is added to the mixture.

  9. 5-HTTLPR - Wikipedia

    en.wikipedia.org/wiki/5-HTTLPR

    5-HTTLPR (serotonin-transporter-linked promoter region) is a degenerate repeat (redundancy in the genetic code) polymorphic region in SLC6A4, the gene that codes for the serotonin transporter. Since the polymorphism was identified in the middle of the 1990s, [ 1 ] [ 2 ] it has been extensively investigated, e.g., in connection with ...

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