Новий підхід до секвенування людського геному дозволив розшифрувати сотні мільйонів раніш недоступних ділянок ДНК. Завдяки цьому науковці створили повну карту геному людини, що безпомилково відтворює людську ДНК на 99,4 відсотків. Точністю доповнить зміни в геномі, пов’язані з генетичними хворобами. Результати опублікували у журналі Cell.
Хромосоми в клітині раку мозку. National Cancer Institute / Unsplash
Які частини геному доповнили в новому дослідженні?
Старі методи секвенування не могли точно зчитувати складні повтори в ДНК, оскільки вони працюють із короткими фрагментами. Такі фрагменти важко правильно зібрати в єдину послідовність, особливо коли однакові ділянки повторюються багато разів, через що частину геному залишалася недоступною для аналізу. Новий підхід розв’язує цю проблему завдяки алгоритму, натренованому склоювувати довгі фрагменти ДНК, які, попри однакові ділянки, можуть відрізнятися між собою. Дослідники також змогли відновити та точно визначити їхню структуру.
Завдяки новій технології вдалося виділити 2–7 відсотків геномічної інформації, ніж при традиційному аналізі. Дослідники також змогли окремо відновити ма00000100000010000000000000000000000000000000000000000000000000001000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000.
Зважаючи на новітні технології, вдалося виявити на 2–7 відсотків більше геномної інформації, ніж при традиційному аналізі. Дослідники також змогли окремо відновити 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