Article

<i>parSMURF</i> , a High Performance Computing tool for the genome-wide detection of pathogenic variants

2020-03-20

Abstract excerpt

Several prediction problems in Computational Biology and Genomic Medicine are characterized by both big data as well as a high imbalance between examples to be learned, whereby positive examples can represent a tiny minority with respect to negative examples. For instance, deleterious or pathogenic variants are overwhelmed by the sea of neutral variants in the non-coding regions of the genome: as a consequence the...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 031781c7-ab82-5471-bfc3-3e309bb344ca
DOI: 10.1101/2020.03.18.994079

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>parSMURF</i> , a High Performance Computing tool for the genome-wide detection of pathogenic variantsDOI 10.1101/2020.03.18.994079Read

parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants.Semantic proximity Read

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants.Semantic proximity Read

Parameters tuning boosts hyperSMURF predictions of rare deleterious non-coding genetic variantsSemantic proximity Read

SparSNP: fast and memory-efficient analysis of all SNPs for phenotype prediction.Semantic proximity Read

DiGeST: Distributed Computing for Scalable Gene and Variant Ranking with Hadoop/SparkSemantic proximity Read

Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics.Semantic proximity Read

Improving classification on imbalanced genomic data via KDE–based synthetic samplingSemantic proximity Read

A multi-array multi-SNP genotyping algorithm for Affymetrix SNP microarrays.Semantic proximity Read

A scalable framework enables phenome-wide association of structural variants in biobank cohortsSemantic proximity Read

Efficient haplotype block recognition of very long and dense genetic sequencesSemantic proximity Read

GenMPI: Cluster Scalable Variant Calling for Short/Long Reads Sequencing DataSemantic proximity Read

fourSynergy: Ensemble-based interaction calling on 4C-seq data using gradient-free optimizationSemantic proximity Read