Kaitlin E. Samocha
Genetics · 2012–2020
A researcher in the Science corpus: 24 papers; trusts 3 researchers and is trusted by 0 researchers here, as inferred from the citation graph.
Subfields
- Genetics — 448 citations into it
- Cognitive Neuroscience — 76 citations into it
- Computational Biology & Bioinformatics — 55 citations into it
Whom Kaitlin E. Samocha trusts overall
Their strongest outbound trust, strongest first, inferred from their citations.
- James Y. Zou
- Silvia De Rubeis
- Steven Henikoff
- Ivan A. Adzhubei
- Jorja G. Henikoff
- J. Kosmicki
- Brian J. O'Roak
Who trusts Kaitlin E. Samocha overall
Papers from Kaitlin E. Samocha's perspective
Ordered by how strongly the researchers Kaitlin E. Samocha trusts endorse each paper. Same corpus, a different order for every researcher.
- Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorder (Nature)
- A method and server for predicting damaging missense mutations
- A Copy Number Variation Morbidity Map of Developmental Delay (Nature Genetics)
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
- MAGMA: Generalized Gene-Set Analysis of GWAS Data (PLoS Comput. Biol.)
- ClinGen--the Clinical Genome Resource. (New England Journal of Medicine)
- ToppGene Suite for gene list enrichment analysis and candidate gene prioritization (Nucleic Acids Res.)
- Identification of common genetic risk variants for autism spectrum disorder (Nature Genetics)
- Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression (Nature Genetics)
- Large-scale inference
Their papers
- The mutational constraint spectrum quantified from variation in 141,456 humans (2020) — 8,441 citations
- A framework for the interpretation of de novo mutation in human disease (2014) — 1,035 citations
- The ExAC browser: displaying reference data information from over 60 000 exomes (2016) — 700 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
- Searching for missing heritability: Designing rare variant association studies (2014) — 633 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
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2019) — 2,000 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
- 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
- Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity (2017) — 301 citations
- Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data (2017) — 161 citations
- Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects (2016) — 22 citations
- Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples (2016) — 373 citations
- High-throughput discovery of novel developmental phenotypes (2016) — 1,088 citations
- Patterns of genic intolerance of rare copy number variation in 59,898 human exomes (2016) — 182 citations
- Human knockouts in a cohort with a high rate of consanguinity (2015) — 12 citations