Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ivan A Adzhubei"'
Autor:
Steffen Schmidt, Anna Gerasimova, Fyodor A Kondrashov, Ivan A Adzhubei, Alexey S Kondrashov, Shamil Sunyaev
Publikováno v:
PLoS Genetics, Vol 4, Iss 12 (2008)
This corrects the article on p. e1000281 in Vol. 4, PMID: 19043566. Hypermutable Non-Synonymous Sites Are Under Stronger Negative Selection.
Externí odkaz:
https://doaj.org/article/9aaae23f5ef544b0937f53e5f88d1b89
Autor:
Steffen Schmidt, Anna Gerasimova, Fyodor A Kondrashov, Ivan A Adzhubei, Ivan A Adzuhbei, Alexey S Kondrashov, Shamil Sunyaev
Publikováno v:
PLoS Genetics, Vol 4, Iss 11, p e1000281 (2008)
Mutation rate varies greatly between nucleotide sites of the human genome and depends both on the global genomic location and the local sequence context of a site. In particular, CpG context elevates the mutation rate by an order of magnitude. Mutati
Externí odkaz:
https://doaj.org/article/d2062b36833943a9937047fa191e4b2b
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-14 (2023)
Abstract Despite the increasing use of genomic sequencing in clinical practice, the interpretation of rare genetic variants remains challenging even in well-studied disease genes, resulting in many patients with Variants of Uncertain Significance (VU
Externí odkaz:
https://doaj.org/article/9c01096cc7754073a3e542a0b783f629
Autor:
Sergei M. Danilov, Ivan A. Adzhubei, Alexander J. Kozuch, Pavel A. Petukhov, Isolda A. Popova, Ananyo Choudhury, Dhriti Sengupta, Steven M. Dudek
Publikováno v:
Biomedicines, Vol 12, Iss 1, p 162 (2024)
We hypothesized that subjects with heterozygous loss-of-function (LoF) ACE mutations are at risk for Alzheimer’s disease because amyloid Aβ42, a primary component of the protein aggregates that accumulate in the brains of AD patients, is cleaved b
Externí odkaz:
https://doaj.org/article/e763b4cce3564c67b2429676de18198f
Publikováno v:
Genet Med
PurposeTo explore whether evidence of pathogenicity from prior variant classifications in ClinVar could be used to inform variant interpretation using the ACMG/AMP clinical guidelines.MethodsWe identify distinct SNVs which are either similar in locat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3facbf6218aa5866a081b49e4d3929bc
https://doi.org/10.1016/j.gim.2022.09.009
https://doi.org/10.1016/j.gim.2022.09.009
Autor:
Sergei M. Danilov, Ivan A. Adzhubei, Alex J. Kozuch, Pavel A. Petukhov, Isolda A. Popova, Ananyo Choudhury, Dhriti Sengupta, Steven M. Dudek
Amyloid Aβ42 (constituents of the protein aggregates in the brains of patients with Alzheimer’s disease (AD) cleaved by ACE, and thus, a decrease in tissue ACE activity (constitutive or ACE inhibitor-induced) could be risk factor for AD. We hypoth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6896df07cf911f517c186394e1340d51
https://doi.org/10.21203/rs.3.rs-2570701/v1
https://doi.org/10.21203/rs.3.rs-2570701/v1
Despite an increasing use of genomic sequencing in clinical practice, interpretation of rare genetic variants remains challenging even in well-studied disease genes, resulting in many patients with Variants of Uncertain Significance (VUSs). Computati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53e814220956ae744b39467dc9468041
https://doi.org/10.1101/2022.06.15.496230
https://doi.org/10.1101/2022.06.15.496230