Laura D. Gauthier - Concepedia

Author

Laura D. Gauthier

Also Known As

Antonio Gambardella, Chelsea Lowther, Claudia Gonzaga-Jauregui, Gauthier, Laura, Groop,, Kylee Degatano, L Gauthier, Laura D. Gauthier, Laura Doyle Gauthier, Laura Gauthier

Publications

32.3K

Citations

H-Index

Concepts

All Affiliations

Broad Institute Massachusetts General Hospital Harvard University Institute for Molecular Medicine Finland Murdoch Children's Research Institute

About

Laura D. Gauthier is an author at Broad Institute specializing in medicine, genetics, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	24	16.8K
2	Public Health	10	11	4.8K
3	Engineering	2	2	42
4	Natural Sciences	2	2	1.2K
5	Education	1	1	50

Laura D. Gauthier

Publications

29K

Citations

H-Index

Page 1

	Year	Citations
Analysis of protein-coding genetic variation in 60,706 humans Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel, Nature Phenotypic VariationProtein-coding Genetic VariationGeneticsHuman PolymorphismGenomics	2016	10.1K
The mutational constraint spectrum quantified from variation in 141,456 humans Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Nature	2020	9.6K
Scaling accurate genetic variant discovery to tens of thousands of samples Ryan Poplin, Valentín Ruano-Rubio, Mark A. DePristo, GeneticsGenetic EpidemiologyGenomicsHc-rcm ScalesHigh Throughput Sequencing	2017	2K
The mutational constraint spectrum quantified from variation in 141,456 humans Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, GeneticsGenomicsClinical GeneticsHuman PhenotypesHuman Variation	2019	1.8K
Landscape of X chromosome inactivation across human tissues Taru Tukiainen, Alexandra–Chloé Villani, Angela Yen, Nature	2017	1.1K
A genomic mutational constraint map using variation in 76,156 human genomes Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Nature MedicineGeneticsEvolutionary BiologyNatural SciencesGenome Analysis	2023	1.1K
A structural variation reference for medical and population genetics Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Nature	2020	1.1K
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Gene Constraint MetricsGeneticsGenetic EpidemiologyNatural SelectionGenomics	2022	322
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, Cell Genomics Genome-wide Association StudyGenetic AnalysisFunctional GenomicsUk Biobank ExomesGenotype-phenotype Association	2022	275
A synthetic-diploid benchmark for accurate variant-calling evaluation Heng Li, Jonathan M. Bloom, Yossi Farjoun, Nature Methods Allelic VariantMutation-based TestingSynthetic-diploid BenchmarkMedicineGenetics	2018	240

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