Publications by authors named "Nicholas A Watts"

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Improved allele frequencies in gnomAD through local ancestry inference.
Pragati Kore, Michael W Wilson, Grace Tiao, Katherine Chao, Philip W Darnowsky, Nicholas A Watts

Nat Commun· October 2025

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Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, Julia K Goodrich, Michael W Wilson, Nicholas A Watts

Nat Commun· October 2025

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Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, Julia K Goodrich, Michael W Wilson, Nicholas A Watts

bioRxiv· June 2024

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The landscape of regional missense mutational intolerance quantified from 125,748 exomes.
Katherine R Chao, Lily Wang, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Nicholas A Watts

bioRxiv· May 2024

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Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.
Siwei Chen, Laurent C Francioli, Julia K Goodrich, Ryan L Collins, Masahiro Kanai, Nicholas A Watts

Nature· February 2024

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Inferring compound heterozygosity from large-scale exome sequencing data.
Michael H Guo, Laurent C Francioli, Sarah L Stenton, Julia K Goodrich, Nicholas A Watts

Nat Genet· January 2024

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A genomic mutational constraint map using variation in 76,156 human genomes.
Siwei Chen, Laurent C Francioli, Julia K Goodrich, Ryan L Collins, Masahiro Kanai, Nicholas A Watts

Nature· January 2024

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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, Eleanor G Seaby, Eleina England, Nicholas A Watts

Am J Hum Genet· September 2023

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Inferring compound heterozygosity from large-scale exome sequencing data.
Michael H Guo, Laurent C Francioli, Sarah L Stenton, Julia K Goodrich, Nicholas A Watts

bioRxiv· August 2023

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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, Eleanor G Seaby, Eleina England, Nicholas A Watts

medRxiv· March 2023

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Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.
Konrad J Karczewski, Matthew Solomonson, Katherine R Chao, Julia K Goodrich, Grace Tiao, Nicholas A Watts

Cell Genom· September 2022

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Variant interpretation using population databases: Lessons from gnomAD.
Sanna Gudmundsson, Moriel Singer-Berk, Nicholas A Watts, William Phu, Julia K Goodrich

Hum Mutat· August 2022

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Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.
Duncan S Palmer, Daniel P Howrigan, Sinéad B Chapman, Rolf Adolfsson, Nick Bass, Nicholas A Watts

Nat Genet· May 2022

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Rare coding variants in ten genes confer substantial risk for schizophrenia.
Tarjinder Singh, Timothy Poterba, David Curtis, Huda Akil, Mariam Al Eissa, Nicholas A Watts

Nature· April 2022

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Mitochondrial DNA variation across 56,434 individuals in gnomAD.
Kristen M Laricchia, Nicole J Lake, Nicholas A Watts, Megan Shand, Andrea Haessly

Genome Res· March 2022

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Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
Sanna Gudmundsson, Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Nicholas A Watts

Nature· September 2021

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Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Nicholas A Watts

Nature· February 2021

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Author Correction: Transcript expression-aware annotation improves rare variant interpretation.
Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, Eleanor G Seaby, Nicholas A Watts

Nature· February 2021

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Author Correction: A structural variation reference for medical and population genetics.
Ryan L Collins, Harrison Brand, Konrad J Karczewski, Xuefang Zhao, Jessica Alföldi, Nicholas A Watts

Nature· February 2021

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A structural variation reference for medical and population genetics.
Ryan L Collins, Harrison Brand, Konrad J Karczewski, Xuefang Zhao, Jessica Alföldi, Nicholas A Watts

Nature· May 2020

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The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Nicholas A Watts

Nature· May 2020

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Transcript expression-aware annotation improves rare variant interpretation.
Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, Eleanor G Seaby, Nicholas A Watts

Nature· May 2020

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Big Data Smart Socket (BDSS): a system that abstracts data transfer habits from end users.
Nicholas A Watts, Frank A Feltus

Bioinformatics· February 2017

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