Daniel G. MacArthur
Genetics · 2003–2022
A researcher in the Science corpus: 46 papers; trusts 8 researchers and is trusted by 1 researcher here, as inferred from the citation graph.
Subfields
- Genetics — 682 citations into it
- Molecular Biology — 629 citations into it; #15,361 of 17,773 by trust here, #309 by citations
- Computational Biology & Bioinformatics — 85 citations into it
- Plant Science — 63 citations into it
- Cognitive Neuroscience — 44 citations into it
- Statistics and Probability — 10 citations into it
- Biomedical Engineering — 5 citations into it
- Computer Vision and Pattern Recognition — 5 citations into it
Whom Daniel G. MacArthur trusts overall
Their strongest outbound trust, strongest first, inferred from their citations.
Who trusts Daniel G. MacArthur overall
Papers from Daniel G. MacArthur's perspective
Ordered by how strongly the researchers Daniel G. MacArthur trusts endorse each paper. Same corpus, a different order for every researcher.
- The Human Gene Mutation Database: 2008 update
- A method and server for predicting damaging missense mutations
- Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry (Nature)
- Velvet: algorithms for de novo short read assembly using de Bruijn graphs.
- Identification of common molecular subsequences.
- Amino acid substitution matrices from protein blocks.
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- The human genome browser at UCSC.
- The Diploid Genome Sequence of an Individual Human (PLoS Biology)
- Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor
Their papers
- A global reference for human genetic variation (2015) — 16,925 citations
- A synthetic-diploid benchmark for accurate variant calling evaluation (2018) — 209 citations
- A systematic survey of loss-of-function variants in human protein-coding genes (2012) — 1,227 citations
- Transcriptome and genome sequencing uncovers functional variation in humans (2013) — 2,017 citations
- The mutational constraint spectrum quantified from variation in 141,456 humans (2020) — 8,441 citations
- The Genotype-Tissue Expression (GTEx) project (2013) — 8,629 citations
- A framework for the interpretation of de novo mutation in human disease (2014) — 1,035 citations
- Genetic effects on gene expression across human tissues (2017) — 3,717 citations
- Dindel: accurate indel calls from short-read data. (2011) — 455 citations
- Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics (2013) — 370 citations
- The GTEx Consortium atlas of genetic regulatory effects across human tissues (2019) — 4,770 citations
- The ExAC browser: displaying reference data information from over 60 000 exomes (2016) — 700 citations
- The UK10K project identifies rare variants in health and disease (2015) — 1,063 citations
- The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity (2015) — 342 citations
- Regional missense constraint improves variant deleteriousness prediction (2017) — 358 citations
- Using high-resolution variant frequencies to empower clinical genome interpretation (2016) — 413 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
- Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics (2016) — 1,036 citations