Konrad J. Karczewski
Genetics · 2010–2023
A researcher in the Science corpus: 36 papers; trusts 6 researchers and is trusted by 1 researcher here, as inferred from the citation graph.
Subfields
- Genetics — 634 citations into it
- Molecular Biology — 592 citations into it; #15,828 of 17,773 by trust here, #1,152 by citations
- Computational Biology & Bioinformatics — 87 citations into it
- Cognitive Neuroscience — 40 citations into it
Whom Konrad J. Karczewski trusts overall
Their strongest outbound trust, strongest first, inferred from their citations.
- James Y. Zou
- Xiaoming Liu
- Naomi R. Wray
- Kun-Hsing Yu
- Joseph K. Pickrell
- Ivan A. Adzhubei
- A. Khera
- Lincoln D. Stein
- Steven Henikoff
- Prateek Kumar
Who trusts Konrad J. Karczewski overall
Papers from Konrad J. Karczewski's perspective
Ordered by how strongly the researchers Konrad J. Karczewski trusts endorse each paper. Same corpus, a different order for every researcher.
- A method and server for predicting damaging missense mutations
- The human genome browser at UCSC.
- Mapping and quantifying mammalian transcriptomes by RNA-Seq (Nature Methods)
- Controlling the false discovery rate: a practical and powerful approach to multiple testing
- The Sequence Alignment/Map format and SAMtools (Bioinform.)
- Finding the missing heritability of complex diseases (Nature)
- Distribution and intensity of constraint in mammalian genomic sequence. (Genome Research)
- Partitioning heritability by functional annotation using genome-wide association summary statistics (Nature Genetics)
- Mapping copy number variation by population scale genome sequencing (Nature)
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Their papers
- Variation in Transcription Factor Binding Among Humans (2010) — 617 citations
- 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
- Integrative omics for health and disease (2018) — 938 citations
- Annotation of functional variation in personal genomes using RegulomeDB (2012) — 2,733 citations
- Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes (2012) — 1,224 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
- 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
- Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics (2016) — 1,036 citations
- Quantifying penetrance in a dominant disease gene using large population control cohorts (2016) — 400 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
- 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
- Rare coding variants in 10 genes confer substantial risk for schizophrenia (2022) — 659 citations
- Mapping the human genetic architecture of COVID-19 (2021) — 807 citations