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1961 1
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1996 1
1997 1
1998 2
1999 1
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2005 2
2007 4
2008 1
2011 1
2012 1
2013 1
2014 2
2015 2
2016 1
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2018 7
2019 3
2020 5
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Detecting the Presence of an Individual in Phenotypic Summary Data.
Liu Y, Wan Z, Xia W, Kantarcioglu M, Vorobeychik Y, Clayton EW, Kho A, Carrell D, Malin BA. Liu Y, et al. AMIA Annu Symp Proc. 2018 Dec 5;2018:760-769. eCollection 2018. AMIA Annu Symp Proc. 2018. PMID: 30815118 Free PMC article.
Genome wide summary statistics have been shown to be vulnerable to the inference of a targeted individual's presence. In this paper, we show that presence attacks are feasible with phenome wide summary statistics as well. ...
Genome wide summary statistics have been shown to be vulnerable to the inference of a targeted individual's presence
Inhaled corticosteroids for chronic obstructive pulmonary disease: what is their role in therapy?
Tashkin DP, Strange C. Tashkin DP, et al. Int J Chron Obstruct Pulmon Dis. 2018 Aug 27;13:2587-2601. doi: 10.2147/COPD.S172240. eCollection 2018. Int J Chron Obstruct Pulmon Dis. 2018. PMID: 30214177 Free PMC article. Review.
ICS-LABA combination therapy is currently recommended for patients with a history of exacerbations despite treatment with long-acting bronchodilators alone. The presence of eosinophilic bronchial inflammation, detected by high blood eosinophil levels or a history of …
ICS-LABA combination therapy is currently recommended for patients with a history of exacerbations despite treatment with long-acting bronch …
Recommendations for epidemiologic and phenotypic research in polycystic ovary syndrome: an androgen excess and PCOS society resource.
Azziz R, Kintziger K, Li R, Laven J, Morin-Papunen L, Merkin SS, Teede H, Yildiz BO. Azziz R, et al. Hum Reprod. 2019 Nov 1;34(11):2254-2265. doi: 10.1093/humrep/dez185. Hum Reprod. 2019. PMID: 31751476
(iii) Four PCOS phenotypes (Phenotypes A through D), based on the presence or absence of three general features (oligo-anovulation, hyperandrogenism and polycystic ovarian morphology), should be ascertained.(iv) In epidemiologic and phenotypic studies, …
(iii) Four PCOS phenotypes (Phenotypes A through D), based on the presence or absence of three general features (oligo- …
Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort.
Clark VC, Marek G, Liu C, Collinsworth A, Shuster J, Kurtz T, Nolte J, Brantly M. Clark VC, et al. J Hepatol. 2018 Dec;69(6):1357-1364. doi: 10.1016/j.jhep.2018.08.005. Epub 2018 Aug 21. J Hepatol. 2018. PMID: 30138687
The accuracy of transient elastography to detect F 2 fibrosis was fair, with an AUC of 0.70 (95% CI 0.58-0.82). ...The results support the hypothesis that liver disease in this genetic condition may be related to a "toxic gain of function" from accumulation of AAT in hepat …
The accuracy of transient elastography to detect F 2 fibrosis was fair, with an AUC of 0.70 (95% CI 0.58-0.82). ...The results suppor …
Detecting pleiotropy in Mendelian randomisation studies with summary data and a continuous outcome.
Greco M FD, Minelli C, Sheehan NA, Thompson JR. Greco M FD, et al. Stat Med. 2015 Sep 20;34(21):2926-40. doi: 10.1002/sim.6522. Epub 2015 May 7. Stat Med. 2015. PMID: 25950993 Free article.
Excluding pleiotropy is difficult, but the use of multiple instruments can indirectly address the issue: if all genes represent valid instruments, their MR estimates should vary only by chance. The Sargan test detects pleiotropy when individual phenotype, out …
Excluding pleiotropy is difficult, but the use of multiple instruments can indirectly address the issue: if all genes represent valid instru …
Significance Testing for Allelic Heterogeneity.
Deng Y, Pan W. Deng Y, et al. Genetics. 2018 Sep;210(1):25-32. doi: 10.1534/genetics.118.301111. Epub 2018 Jun 29. Genetics. 2018. PMID: 29959179 Free PMC article.
We also propose two sequential IUT-based testing procedures to estimate the number of causal SNPs. Our proposed methods are applicable to not only individual-level genotypic and phenotypic data, but also genome-wide association study (GWAS) summary sta …
We also propose two sequential IUT-based testing procedures to estimate the number of causal SNPs. Our proposed methods are applicable to no …
Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution.
Wu Y, Broadaway KA, Raulerson CK, Scott LJ, Pan C, Ko A, He A, Tilford C, Fuchsberger C, Locke AE, Stringham HM, Jackson AU, Narisu N, Kuusisto J, Pajukanta P, Collins FS, Boehnke M, Laakso M, Lusis AJ, Civelek M, Mohlke KL. Wu Y, et al. Hum Mol Genet. 2019 Dec 15;28(24):4161-4172. doi: 10.1093/hmg/ddz263. Hum Mol Genet. 2019. PMID: 31691812
However, evaluating whether nearby signals may share causal variants, termed colocalization, is affected by the presence of allelic heterogeneity, different variants at the same locus impacting the same phenotype. ...Next, we performed conditional analysis on the ME …
However, evaluating whether nearby signals may share causal variants, termed colocalization, is affected by the presence of allelic h …
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.
Hoyer J, Vasileiou G, Uebe S, Wunderle M, Kraus C, Fasching PA, Thiel CT, Hartmann A, Beckmann MW, Lux MP, Reis A. Hoyer J, et al. BMC Cancer. 2018 Sep 26;18(1):926. doi: 10.1186/s12885-018-4821-8. BMC Cancer. 2018. PMID: 30257646 Free PMC article.
So far, TNBC has been mainly associated with mutations in BRCA1. The presence of other predisposing genes seems likely since DNA damage repair is a complex process that involves several genes. ...Most importantly, among the 57 mutation carriers, ten (17.5%) would be missed …
So far, TNBC has been mainly associated with mutations in BRCA1. The presence of other predisposing genes seems likely since DNA dama …
Genetic and nongenetic factors that may predispose individuals to allergic drug reactions.
Gibson A, Ogese M, Pirmohamed M. Gibson A, et al. Curr Opin Allergy Clin Immunol. 2018 Aug;18(4):325-332. doi: 10.1097/ACI.0000000000000459. Curr Opin Allergy Clin Immunol. 2018. PMID: 29889140 Review.
Furthermore, the environment can epigenetically influence regulatory gene expression, suggesting that an individual's family exposure history may alter immune thresholds and tip the balance toward activation. ...This should be accompanied by detailed clinical phe
Furthermore, the environment can epigenetically influence regulatory gene expression, suggesting that an individual's family e …
Epilepsy.
Beghi E. Beghi E. Curr Opin Neurol. 2007 Apr;20(2):169-74. doi: 10.1097/WCO.0b013e3280d646e4. Curr Opin Neurol. 2007. PMID: 17351487 Review.
Cognitive regression may be associated with the presence of interictal electroencephalographic epileptiform abnormalities. ...SUMMARY: Recent research highlights the complexity of the mechanisms of epileptogenesis and drug response, and the difficulties with the cla …
Cognitive regression may be associated with the presence of interictal electroencephalographic epileptiform abnormalities. ...SUMM
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