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View article: Saturation genome editing of <i>BARD1</i> resolves VUS and provides insight into BRCA1-BARD1 tumor suppression
Saturation genome editing of <i>BARD1</i> resolves VUS and provides insight into BRCA1-BARD1 tumor suppression Open
BARD1 variants are associated with hereditary breast cancer and neuroblastoma, yet, 98% of missense variants remain variants of uncertain significance (VUS). We applied Saturation Genome Editing (SGE) to assess 8,818 SNVs and 2,097 3-base …
View article: A framework for reproductive outcomes of phenological match–mismatch in migratory breeders tested on a declining species, caribou
A framework for reproductive outcomes of phenological match–mismatch in migratory breeders tested on a declining species, caribou Open
Long-distance migrants with endogenously timed reproduction may be especially vulnerable to phenological mismatch on summer ranges where offspring are produced and provisioned. In such species, departure timing from winter ranges, and cons…
View article: Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations Open
Generation of saturation-style MAVE data should be a priority to reduce VUS disparities and produce equitable training data for future computational predictors.
View article: Large herbivores link plant phenology and abundance in Arctic tundra
Large herbivores link plant phenology and abundance in Arctic tundra Open
Plant phenological dynamics have been well studied in relation to abiotic conditions and climate change, but comparatively poorly studied in relation to herbivory. In contrast, plant abundance dynamics have been well studied in relation to…
View article: A framework for reproductive outcomes of phenological match-mismatch in migratory breeders tested on a declining species, caribou
A framework for reproductive outcomes of phenological match-mismatch in migratory breeders tested on a declining species, caribou Open
Long distance migrants with endogenously timed reproduction may be especially vulnerable to phenological mismatch on summer ranges where offspring are produced and provisioned. This is because departure timing from winter ranges and breedi…
View article: Defining and Reducing Variant Classification Disparities
Defining and Reducing Variant Classification Disparities Open
Background Multiplexed Assays of Variant Effects (MAVEs) can test all possible single variants in a gene of interest. The resulting saturation-style data may help resolve variant classification disparities between populations, especially f…
View article: Large herbivores link plant phenology and abundance in arctic tundra
Large herbivores link plant phenology and abundance in arctic tundra Open
Plant phenology has been well studied in relation to abiotic conditions and climate change, but poorly studied in relation to herbivory. In contrast, plant abundance dynamics have been well studied in relation to abiotic conditions and her…
View article: O01: Using multiplexed functional data to reduce the VUS burden in populations underrepresented in genomic medicine
O01: Using multiplexed functional data to reduce the VUS burden in populations underrepresented in genomic medicine Open
Genetic testing has the potential to personalize healthcare and improve health outcomes. However, disparities in access to genomic medicine and variant interpretation have emerged as critical issues. These disparities are particularly evid…