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Oczekuje się iż zrozumienie związku między zmiennością genetyczną i funkcją biologiczną w skali genomu dostarczy całkiem nowego spojrzenia na biologię, ewolucję i patofizjologię człowieka i innych gatunków. Powodem ówczesnej fascynacji mutacjami pojedynczego nukleotydu (SNP) jest teoretyczna możliwość wykorzystania ich jako markery do identyfikacji powszechnych, wieloczynnikowych chorób.
W przypadku genotypowania niskiej liczby SNP-ów (mniej niż 15), wówczas metoda Sekwencjonowania Sangera jest odpowiednia. Geny predysponujące do choroby są genotypowane szybko i efektywnie.

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