Author: Namrata Gupta

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Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

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

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An open resource of structural variation for medical and population genetics

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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

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Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

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The Genetic Landscape of Diamond-Blackfan Anemia

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Quality Control and Integration of Genotypes from Two Calling Pipelines for Whole Genome Sequence Data in the Alzheimer's Disease Sequencing Project

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Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

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Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

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Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease

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