Accès ouvert
2021
article
OpenAlex
N. Grarup, T.I. Pollin, S.‐H. Han, R.C.W. Ma et autres
Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains …
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2021
article
OpenAlex
M. DePristo, R. Duggirala, A.L. Williams, A. Mazur et autres
A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare variants to the risk of type 2 diabetes (T2D) and …
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2012
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OpenAlex
T.I. Pollin
Pre-1939: Nadwórna, town, powiat center, Stanisławów województwo, Poland; 1939–1941: Nadvornaia, raion center, Stanislav oblast’, Ukrainian SSR; 1941–1944: Nadworna, Kreis Stanislau, Distrikt Galizien, Generalgouvernement; post-1991: Nadvirna, raion center, Ivano-Frankivs’k oblast’, Ukraine Nadwórna is located about 40 kilometers (25 miles) south of Stanisławów. In …