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Your search keyword '"Gudmundsson, Sanna"' showing total 2 results
Start Over Author "Gudmundsson, Sanna" Topic human genome
2 results on '"Gudmundsson, Sanna"'

1. Interpreting variants in genes affected by clonal hematopoiesis in population data.

Author

Gudmundsson, Sanna, Carlston, Colleen M., and O'Donnell-Luria, Anne

Subjects
*GENETIC variation, *HUMAN genome, *DATABASES, *HEMATOPOIESIS, *GENOMES
Abstract

Reference population databases like the Genome Aggregation Database (gnomAD) have improved our ability to interpret the human genome. Variant frequencies and frequency-derived tools (such as depletion scores) have become fundamental to variant interpretation and the assessment of variant–gene–disease relationships. Clonal hematopoiesis (CH) obstructs variant interpretation as somatic variants that provide proliferative advantage will affect variant frequencies, depletion scores, and downstream filtering. Further, default filtering of variants or genes associated with CH risks filtering bona fide germline variants as variants associated with CH can also cause Mendelian conditions. Here, we provide our insights on interpreting population variant data in genes affected by clonal hematopoiesis, as well as recommendations for careful review of 36 established CH genes associated with neurodevelopmental conditions. [ABSTRACT FROM AUTHOR]

Published
2024
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2. Variant interpretation using population databases: Lessons from gnomAD

Author

Gudmundsson, Sanna, Singer-Berk, Moriel, Watts, Nicholas A., Phu, William, Goodrich, Julia K., Solomonson, Matthew, Consortium, Genome Aggregation Database, Rehm, Heidi L., MacArthur, Daniel G., and ODonnell-Luria, Anne

Subjects
Genomics (q-bio.GN), education.field_of_study, Database, Interpretation (philosophy), Population, Variation (game tree), Biology, computer.software_genre, Genome, Article, Identification (information), Rare Diseases, Gene Frequency, FOS: Biological sciences, Databases, Genetic, Genetics, Humans, Quantitative Biology - Genomics, Reference population, Human genome, education, computer, Allele frequency, Software, Genetics (clinical)
Abstract

Reference population databases are an essential tool in variant and gene interpretation. Their use guides the identification of pathogenic variants amidst the sea of benign variation present in every human genome, and supports the discovery of new disease-gene relationships. The Genome Aggregation Database (gnomAD) is currently the largest and most widely used publicly available collection of population variation from harmonized sequencing data. The data is available through the online gnomAD browser (https://gnomad.broadinstitute.org/) that enables rapid and intuitive variant analysis. This review provides guidance on the content of the gnomAD browser, and its usage for variant and gene interpretation. We introduce key features including allele frequency, per-base expression levels, constraint scores, and variant co-occurrence, alongside guidance on how to use these in analysis, with a focus on the interpretation of candidate variants and novel genes in rare disease., Version 3: Includes updates to mirror the latest features and layouts available on the gnomAD browser and general improvements to text and figures (clarifications, typos, additional references etc.) as well as the addition of Table S1, S2, Figure S1, S2 and S5

Published
2021

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