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Variant priorization and analysis incorporating problematic regions of the genome

Pacific Symposium on Biocomputing

Dec 4, 2013

Anil PatwardhanRichard Chen

PMID: 24297554

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Abstract

In case-control studies of rare Mendelian disorders and complex diseases, the power to detect variant and gene-level associations of a given effect size is limited by the size of the study sample. Paradoxically, low statistical power may increase the likelihood that a statistically sign...read more

Mentioned in this Paper

Genome
CFTR protein, human
Protein Function
Cystic Fibrosis
Candidate Gene Identification
Sample Size
Individualized Medicine
Atypical Mycobacteriosis, Familial
Pulmonary Cystic Fibrosis
Nested Case-Control Studies
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Variant priorization and analysis incorporating problematic regions of the genome

Pacific Symposium on Biocomputing

Dec 4, 2013

Anil PatwardhanRichard Chen

PMID: 24297554

DOI:

Abstract

In case-control studies of rare Mendelian disorders and complex diseases, the power to detect variant and gene-level associations of a given effect size is limited by the size of the study sample. Paradoxically, low statistical power may increase the likelihood that a statistically sign...read more

Mentioned in this Paper

Genome
CFTR protein, human
Protein Function
Cystic Fibrosis
Candidate Gene Identification
Sample Size
Individualized Medicine
Atypical Mycobacteriosis, Familial
Pulmonary Cystic Fibrosis
Nested Case-Control Studies

Feeds With Similar Papers

Precision Medicine

Precision medicine is a medical model that proposes the customization of healthcare, with medical decisions, treatments, practices, or products being tailored to the patient traits and specific molecular features of disease processes. In this model, diagnostic testing is often employed for selecting appropriate and optimal therapies based on the context of a patient’s genetic content or other molecular or cellular analysis. Tools employed in precision medicine can include molecular diagnostics, imaging, and analytics

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Structural Biology: Biophysics describes the study of structural biology using various biophysical techiniques such as imaging, computational modeling, etc. Discover the latest research on structrual biology here.

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