Laura D. Gauthier
Molecular Biology · 2016–2023
A researcher in the Science corpus: 13 papers; trusts 1 researcher and is trusted by 0 researchers here, as inferred from the citation graph.
Subfields
- Molecular Biology — 270 citations into it
Whom Laura D. Gauthier trusts overall
Their strongest outbound trust, strongest first, inferred from their citations.
Papers from Laura D. Gauthier's perspective
Ordered by how strongly the researchers Laura D. Gauthier trusts endorse each paper. Same corpus, a different order for every researcher.
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- Identification of common molecular subsequences.
- The human genome browser at UCSC.
- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- A Fast and Symmetric DUST Implementation to Mask Low-Complexity DNA Sequences (J. Comput. Biol.)
- Mapping short DNA sequencing reads and calling variants using mapping quality scores. (Genome Research)
- The Sequence Alignment/Map format and SAMtools (Bioinform.)
- De novo assembly and genotyping of variants using colored de Bruijn graphs (Nature Genetics)
- Biological Sequence Analysis: Probabilistic Models of Proteins and Nucleic Acids
- Fast and accurate long-read alignment with Burrows–Wheeler transform (Bioinform.)
Their papers
- A synthetic-diploid benchmark for accurate variant calling evaluation (2018) — 209 citations
- The mutational constraint spectrum quantified from variation in 141,456 humans (2020) — 8,441 citations
- Landscape of X chromosome inactivation across human tissues (2016) — 943 citations
- Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes (2019) — 1,088 citations
- Scaling accurate genetic variant discovery to tens of thousands of samples (2017) — 1,758 citations
- Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2019) — 162 citations
- A genomic mutational constraint map using variation in 76,156 human genomes (2023) — 1,228 citations
- A genome-wide mutational constraint map quantified from variation in 76,156 human genomes (2022) — 258 citations
- Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2020) — 126 citations
- A structural variation reference for medical and population genetics (2020) — 876 citations
- Evaluating drug targets through human loss-of-function genetic variation (2019) — 168 citations
- An open resource of structural variation for medical and population genetics (2019) — 76 citations
- Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2019) — 3 citations