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Varapp: A reactive web-application for variants filtering

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Inferred edges come from two machine sources: sweeps of open repository metadata (mostly SSRN and Zenodo), and a bulk OpenAlex citation snapshot. Every row below is labelled with the one it came from. Neither is a complete citation index — absence here is not evidence of absence.

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1016/j.ygeno.2014.02.006openalex-snapshot

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels

inferredcites →https://doi.org/10.1038/nbt.3237openalex-snapshot

Good laboratory practice for clinical next-generation sequencing informatics pipelines

inferredcites →https://doi.org/10.1093/bib/bbv051openalex-snapshot

VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files

inferredcites →https://doi.org/10.1093/bib/bbv084openalex-snapshot

Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment

inferredcites →https://doi.org/10.1093/nar/gkq603openalex-snapshot

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

inferredcites →https://doi.org/10.1093/nar/gkr1257openalex-snapshot

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

inferredcites →https://doi.org/10.1101/gr.163832.113openalex-snapshot

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

inferredcites →https://doi.org/10.1136/jmedgenet-2012-100918openalex-snapshot

wANNOVAR: annotating genetic variants for personal genomes via the web

inferredcites →https://doi.org/10.1186/preaccept-1622561303131056openalex-snapshot

VariantDB: A flexible annotation and filtering portal for next generation sequencing data

inferredcites →https://doi.org/10.1371/journal.pcbi.1003153openalex-snapshot

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1016/j.ajhg.2021.04.001openalex-snapshot

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

inferred← citeshttps://doi.org/10.1038/s41525-021-00255-zopenalex-snapshot

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

inferred← citeshttps://doi.org/10.1101/693937openalex-snapshot

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

inferred← citeshttps://doi.org/10.1177/1178631019839010openalex-snapshot

De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome

inferred← citeshttps://doi.org/10.3389/fendo.2020.00626openalex-snapshot

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature

inferred← citeshttps://doi.org/10.3389/fnint.2020.00045openalex-snapshot

Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy

inferred← citeshttps://doi.org/10.3390/genes14030707openalex-snapshot

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

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