Publications by authors named "Laura D Gauthier"

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Author Correction: GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.
Mehrtash Babadi, Jack M Fu, Samuel K Lee, Andrey N Smirnov, Laura D Gauthier

Nat Genet· March 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, Laura D Gauthier

Nature· February 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, Laura D Gauthier

Nature· January 2024

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CHARR efficiently estimates contamination from DNA sequencing data.
Wenhan Lu, Laura D Gauthier, Timothy Poterba, Edoardo Giacopuzzi, Julia K Goodrich

Am J Hum Genet· December 2023

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Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Chelsea Lowther, Elise Valkanas, Jessica L Giordano, Harold Z Wang, Benjamin B Currall, Laura D Gauthier

Am J Hum Genet· September 2023

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GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.
Mehrtash Babadi, Jack M Fu, Samuel K Lee, Andrey N Smirnov, Laura D Gauthier

Nat Genet· September 2023

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CHARR efficiently estimates contamination from DNA sequencing data.
Wenhan Lu, Laura D Gauthier, Timothy Poterba, Edoardo Giacopuzzi, Julia K Goodrich

bioRxiv· June 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, Laura D Gauthier

Cell Genom· September 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, Laura D Gauthier

Nature· September 2021

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Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
Qingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, Jessica Alföldi, Laurent C Francioli, Laura D Gauthier

Nat Commun· February 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, Laura D Gauthier

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, Laura D Gauthier

Nature· February 2021

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Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
Qingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, Jessica Alföldi, Laurent C Francioli, Laura D Gauthier

Nat Commun· May 2020

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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, Laura D Gauthier

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, Laura D Gauthier

Nature· May 2020

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An integrated mitochondrial ROS production and scavenging model: implications for heart failure.
Laura D Gauthier, Joseph L Greenstein, Brian O'Rourke, Raimond L Winslow

Biophys J· December 2013

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A computational model of reactive oxygen species and redox balance in cardiac mitochondria.
Laura D Gauthier, Joseph L Greenstein, Sonia Cortassa, Brian O'Rourke, Raimond L Winslow

Biophys J· August 2013

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Toward an integrative computational model of the Guinea pig cardiac myocyte.
Laura Doyle Gauthier, Joseph L Greenstein, Raimond L Winslow

Front Physiol· October 2012

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