Article
Hypothesis-free phenotype prediction within a genetics-first framework.
Nature communications - 17 Feb 2023
Lu Chang, Zaucha Jan, Gam Rihab, Fang Hai, Ben Smithers, Oates Matt E, Bernabe-Rubio Miguel, Williams James, Zelenka Natalie, Pandurangan Arun Prasad, Tandon Himani, Shihab Hashem, Kalaivani Raju, Sung Minkyung, Sardar Adam J, Tzovoras Bastian Greshake, Danovi Davide, Gough Julian
Abstract excerpt
Cohort-wide sequencing studies have revealed that the largest category of variants is those deemed 'rare', even for the subset located in coding regions (99% of known coding variants are seen in less than 1% of the population. Associative methods give some understanding how rare genetic variants influence disease and organism-level phenotypes. But here we show that additional discoveries can be made through a...
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