Beryl B. Cummings
Genetics · 2016–2020
A researcher in the Science corpus: 15 papers; trusts 1 researcher and is trusted by 0 researchers here, as inferred from the citation graph.
Subfields
- Genetics — 292 citations into it
- Computational Biology & Bioinformatics — 40 citations into it
Whom Beryl B. Cummings trusts overall
Their strongest outbound trust, strongest first, inferred from their citations.
Papers from Beryl B. Cummings's perspective
Ordered by how strongly the researchers Beryl B. Cummings trusts endorse each paper. Same corpus, a different order for every researcher.
- ClinVar: public archive of interpretations of clinically relevant variants
- The human genome browser at UCSC.
- A method and server for predicting damaging missense mutations
- PhyloCSF: a comparative genomics method to distinguish protein coding and non-coding regions (Bioinform.)
- KEGG: Kyoto Encyclopedia of Genes and Genomes (Nucleic Acids Res.)
- ClinVar: improving access to variant interpretations and supporting evidence
- An expanded view of complex traits: from polygenic to omnigenic (Cell)
- A gene-based association method for mapping traits using reference transcriptome data (Nature Genetics)
- Polygenic Modeling with Bayesian Sparse Linear Mixed Models (PLoS Genetics)
- Next-generation genotype imputation service and methods (Nature Genetics)
Their papers
- The mutational constraint spectrum quantified from variation in 141,456 humans (2020) — 8,441 citations
- Genetic effects on gene expression across human tissues (2017) — 3,717 citations
- The ExAC browser: displaying reference data information from over 60 000 exomes (2016) — 700 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
- Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics (2016) — 1,036 citations
- Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2019) — 162 citations
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing (2016) — 689 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
- Transcript expression-aware annotation improves rare variant discovery and interpretation (2019) — 26 citations
- Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease (2019) — 13 citations
- Evaluating potential drug targets through human loss-of-function genetic variation (2019) — 22 citations
- Evaluating drug targets through human loss-of-function genetic variation (2019) — 168 citations
- Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2019) — 3 citations