ExAC cohort

Aliases

ExAC pLI metrics, Exome Aggregation Consortium

Related entities (1)

Mentioned in (30)

Papers in which this entity is mentioned.

• CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
• Variant interpretation using population databases: Lessons from gnomAD. (2022)
• Integrating molecular profiles into clinical frameworks through the Molecular Oncology Almanac to prospectively guide precision oncology. (2021)
• Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. (2021)
• Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring. (2020)
• The mutational constraint spectrum quantified from variation in 141,456 humans. (2020)
• Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors. (2020)
• Sensitive Periods for the Effect of Childhood Adversity on DNA Methylation: Results From a Prospective, Longitudinal Study. (2019)
• Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. (2019)
• Rare variant phasing using paired tumor:normal sequence data. (2019)
• The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
• The GenomeAsia 100K Project enables genetic discoveries across Asia. (2019)
• Structural variant calling: the long and the short of it. (2019)
• Identification of common genetic risk variants for autism spectrum disorder. (2019)
• A SNP panel for identification of DNA and RNA specimens. (2018)
• Widespread Selection for Oncogenic Mutant Allele Imbalance in Cancer. (2018)
• Identification of novel candidate disease genes from de novo exonic copy number variants. (2017)
• GAVIN: Gene-Aware Variant INterpretation for medical sequencing. (2017)
• CRAVAT 4: Cancer-Related Analysis of Variants Toolkit. (2017)
• Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. (2017)
• Ensembl 2017. (2017)
• Genetic effects on gene expression across human tissues. (2017)
• Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. (2017)
• A method to reduce ancestry related germline false positives in tumor only somatic variant calling. (2017)
• PGBD5 promotes site-specific oncogenic mutations in human tumors. (2017)
• Fast and Accurate Genomic Analyses using Genome Graphs (2017)
• New insights into the generation and role of de novo mutations in health and disease. (2016)
• Integrated digital error suppression for improved detection of circulating tumor DNA. (2016)
• The human gene damage index as a gene-level approach to prioritizing exome variants. (2015)
• Genetic linkage analysis in the age of whole-genome sequencing. (2015)

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