Anne H O'Donnell-Luria · researcher · YYNN

Anne H O'Donnell-Luria

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researcher

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Works
9

Health and population effects of rare gene knockouts in adult humans with related parents

scientific article

Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space

scientific article published on 13 January 2022

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture

scientific article published on 01 January 2019

Using high-resolution variant frequencies to empower clinical genome interpretation

article published in 2016

ClinVar data parsing

scientific article

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

Using high-resolution variant frequencies to empower clinical genome interpretation.

scientific article published on 18 May 2017

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