ArticleProceedings of the National Academy of Sciences of the United States of America2017
PEMapper and PECaller provide a simplified approach to whole-genome sequencing.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed.
- Genetic determinants of childhood onset systemic lupus erythematosus.Lupus science & medicine · 2026Article
- Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome.Nature communications · 2026Article
- Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions.Nature genetics · 2025Article
- Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.NPJ genomic medicine · 2023Article
- Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons.American journal of human genetics · 2022Article
- Identification ofProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.Frontiers in aging neuroscience · 2022Article
- Novel MissenseFrontiers in neurology · 2022Article
- Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.Fertility and sterility · 2021Article
- Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.Molecular psychiatry · 2021Article
- Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.Scientific reports · 2020Article
- CNV Radar: an improved method for somatic copy number alteration characterization in oncology.BMC bioinformatics · 2020Article
- Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.Hepatology (Baltimore, Md.) · 2019Article
- Article
- Rare variants in MYH15 modify amyotrophic lateral sclerosis risk.Human molecular genetics · 2019Article
- Association of Early-Onset Alzheimer Disease With Elevated Low-Density Lipoprotein Cholesterol Levels and Rare Genetic Coding Variants of APOB.JAMA neurology · 2019Article
- Host Genome Variation is Associated with Neurocognitive Outcome in Survivors of Pediatric Medulloblastoma.Translational oncology · 2019Article
- Neutrophil GM-CSF signaling in inflammatory bowel disease patients is influenced by non-coding genetic variants.Scientific reports · 2019Article
- Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.Inflammatory bowel diseases · 2019Article
- De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.Brain : a journal of neurology · 2018Article
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Funding
Abstract
The analysis of human whole-genome sequencing data presents significant computational challenges. The sheer size of datasets places an enormous burden on computational, disk array, and network resources. Here, we present an integrated computational package, PEMapper/PECaller, that was designed specifically to minimize the burden on networks and disk arrays, create output files that are minimal in size, and run in a highly computationally efficient way, with the single goal of enabling whole-genome sequencing at scale. In addition to improved computational efficiency, we implement a statistical framework that allows for a base by base error model, allowing this package to perform as well or better than the widely used Genome Analysis Toolkit (GATK) in all key measures of performance on human whole-genome sequences.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.