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Advanced Search Results For "Noah Zaitlen"

1 - 10 of 305 results for
 "Noah Zaitlen"
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Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative

Publication Type: Academic Journal

Source(s): Genome Medicine, Vol 14, Iss 1, Pp 1-23 (2022)

Abstract: Abstract Background Large medical centers in urban areas, like Los Angeles, care for a diverse patient population and offer the potential to study the interplay between genetic ancestry and social determinants of health. Here, we explore the implicatio...

Multi-context genetic modeling of transcriptional regulation resolves novel disease loci

Publication Type: Academic Journal

Source(s): Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)

Abstract: Transcriptome-wide association studies (TWAS) often ignore the specificity and sharing of effects across contexts (e.g., tissues). Here, the authors describe a method to split genetic effects into context-shared and context-specific terms. They apply t...

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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...

Leveraging pleiotropy for joint analysis of genome-wide association studies with per trait interpretations.

Publication Type: Academic Journal

Source(s): PLoS Genetics, Vol 18, Iss 11, p e1010447 (2022)

Abstract: We introduce pleiotropic association test (PAT) for joint analysis of multiple traits using genome-wide association study (GWAS) summary statistics. The method utilizes the decomposition of phenotypic covariation into genetic and environmental componen...

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Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1

Publication Type: Academic Journal

Source(s): Genome Medicine, Vol 14, Iss 1, Pp 1-22 (2022)

Abstract: Abstract Background Amyotrophic lateral sclerosis (ALS) is a complex, late-onset, neurodegenerative disease with a genetic contribution to disease liability. Genome-wide association studies (GWAS) have identified ten risk loci to date, including the TN...

Constructing germline research cohorts from the discarded reads of clinical tumor sequences

Publication Type: Academic Journal

Source(s): Genome Medicine, Vol 13, Iss 1, Pp 1-14 (2021)

Abstract: Abstract Background Hundreds of thousands of cancer patients have had targeted (panel) tumor sequencing to identify clinically meaningful mutations. In addition to improving patient outcomes, this activity has led to significant discoveries in basic an...

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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Comprehensive cell type decomposition of circulating cell-free DNA with CelFiE

Publication Type: Academic Journal

Source(s): Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

Abstract: Tissue damage and turnover lead to the release of DNA in the blood and can be used to monitor changes in tissue state. Here, the authors developed a tool to accurately estimate the proportion of cell types contributing to cell-free DNA in the blood, wi...

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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...

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