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Bioinformatics (Oxford, England)
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November 1, 2016
Big Data Smart Socket (BDSS): a system that abstracts data transfer habits from end users
Nicholas A Watts, Frank A Feltus
Human Mutation
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December 3, 2021
Variant interpretation using population databases: Lessons from gnomAD
Sanna Gudmundsson, Moriel Singer-Berk, Nicholas A Watts, et al.
Biorxiv : the Preprint Server for Biology
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June 25, 2024
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
Nature Communications
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November 1, 2025
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
Nature Communications
|
October 6, 2025
Improved allele frequencies in gnomAD through local ancestry inference
Pragati Kore, Michael W Wilson, Grace Tiao, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 22, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data
Moriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.
American Journal of Human Genetics
|
August 26, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data
Moriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.
Genome Research
|
January 25, 2022
Mitochondrial DNA variation across 56,434 individuals in gnomAD
Kristen M Laricchia, Nicole J Lake, Nicholas A Watts, et al.
Nature
|
May 29, 2020
Transcript expression-aware annotation improves rare variant interpretation
Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Nature
|
February 4, 2021
Author Correction: Transcript expression-aware annotation improves rare variant interpretation
Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
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Search research articles
Search
Showing results (1-10 of 23) with videos related to
Sort By:
Page
of 3
Bioinformatics (Oxford, England)
|
November 1, 2016
Big Data Smart Socket (BDSS): a system that abstracts data transfer habits from end users
Nicholas A Watts, Frank A Feltus
Human Mutation
|
December 3, 2021
Variant interpretation using population databases: Lessons from gnomAD
Sanna Gudmundsson, Moriel Singer-Berk, Nicholas A Watts, et al.
Biorxiv : the Preprint Server for Biology
|
June 25, 2024
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
Nature Communications
|
November 1, 2025
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
Nature Communications
|
October 6, 2025
Improved allele frequencies in gnomAD through local ancestry inference
Pragati Kore, Michael W Wilson, Grace Tiao, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 22, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data
Moriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.
American Journal of Human Genetics
|
August 26, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data
Moriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.
Genome Research
|
January 25, 2022
Mitochondrial DNA variation across 56,434 individuals in gnomAD
Kristen M Laricchia, Nicole J Lake, Nicholas A Watts, et al.
Nature
|
May 29, 2020
Transcript expression-aware annotation improves rare variant interpretation
Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Nature
|
February 4, 2021
Author Correction: Transcript expression-aware annotation improves rare variant interpretation
Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Page
of 3