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Advanced Search Results For "Zaitlen N"

1 - 10 of 116 results for
 "Zaitlen N"
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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Publication Type: Academic Journal

Source(s): Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

Abstract: Penetrance of variants in monogenic disease and clinical utility of common polygenic variation has not been well explored on a large-scale. Here, the authors use exome sequencing data from 77,184 individuals to generate penetrance estimates and assess ...

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An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

Publication Type: Academic Journal

Source(s): iScience, Vol 24, Iss 11, Pp 103221- (2021)

Abstract: Summary: Neurodegenerative diseases are challenging for systems biology because of the lack of reliable animal models or patient samples at early disease stages. Induced pluripotent stem cells (iPSCs) could address these challenges. We investigated DNA...

Cis-eQTL-based trans-ethnic meta-analysis reveals novel genes associated with breast cancer risk.

Publication Type: Academic Journal

Source(s): PLoS Genetics, Vol 13, Iss 3, p e1006690 (2017)

Abstract: Breast cancer is the most common solid organ malignancy and the most frequent cause of cancer death among women worldwide. Previous research has yielded insights into its genetic etiology, but there remains a gap in the understanding of genetic factors...

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Informed conditioning on clinical covariates increases power in case-control association studies.

Publication Type: Academic Journal

Source(s): PLoS Genetics, Vol 8, Iss 11, p e1003032 (2012)

Abstract: Genetic case-control association studies often include data on clinical covariates, such as body mass index (BMI), smoking status, or age, that may modify the underlying genetic risk of case or control samples. For example, in type 2 diabetes, odds rat...

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Methylation risk scores are associated with a collection of phenotypes within electronic health record systems

Publication Type: Academic Journal

Source(s): npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)

Abstract: Abstract Inference of clinical phenotypes is a fundamental task in precision medicine, and has therefore been heavily investigated in recent years in the context of electronic health records (EHR) using a large arsenal of machine learning techniques, a...

Efficient Association Study Design Via Power-Optimized Tag SNP Selection.

Publication Type: Academic Journal

Source(s): Annals of Human Genetics; Nov2008, Vol. 72 Issue 6, p834-847, 14p, 8 Graphs

Abstract: Copyright of Annals of Human Genetics is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, downloa...

Cis-eQTL-based trans-ethnic meta-analysis reveals novel genes associated with breast cancer risk.

Publication Type: Academic Journal

Source(s): PLoS Genetics; 3/31/2017, Vol. 13 Issue 3, p1-19, 19p, 3 Charts, 2 Graphs

Abstract: Copyright of PLoS Genetics is the property of Public Library of Science and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download...

Informed Conditioning on Clinical Covariates Increases Power in Case-Control Association Studies.

Publication Type: Academic Journal

Source(s): PLoS Genetics; Nov2012, Vol. 8 Issue 11, Special section p1-13, 13p, 5 Charts, 2 Graphs

Abstract: Copyright of PLoS Genetics is the property of Public Library of Science and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download...

Analysis of case–control association studies with known risk variants.

Publication Type: Academic Journal

Source(s): Bioinformatics; Jul2012, Vol. 28 Issue 13, p1729-1737, 9p

Abstract: Copyright of Bioinformatics is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, dow...

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