H.E.L.E.N. (Homopolymer Encoded Long-read Error-corrector for Nanopore)
DeepMosaic is a deep-learning-based mosaic single nucleotide classification tool without the need of matched control information.
The script presents a simple way to visualize features on human chromosome ideograms
LOVD3 development repository
Automated ACMG/AMP classification for human variants associated with congenital hearing loss
This is a pipeline for quality control and cleanup for genetic data. It can be tailored to fit whole genome, exome sequencing or SNP array
Multiresponse time-to-event Cox proportional hazards model - CPU
Pedigree generation software incorporating PRIMUS, ERSA, and PADRE.
PRP: Pathogenic Risk Prediction for Rare Nonsynonymous Single Nucleotide Variants
Ablation of rule-based models for therapeutic exon-skipping targets in Duchenne muscular dystrophy (DMD) — reading-frame arithmetic, splice topology and domain constraints, tested layer by layer against public genomics data.
Falsifiable drug-target validation: a content-addressed audit engine for direction of effect (inhibit vs. activate), built on Open Targets colocalization and benchmarked against approved drug–target pairs. SHA-locked rules; allowed to refuse.
Why the best genetically validated pain target keeps failing in the clinic: a genetic–pharmacological asymmetry at Nav1.7 (SCN9A), worked through single-cell atlases, a homeostatic-compensation model and human genetics.
Machine learning models of conserved regulatory elements and human genetics of neuropsychiatric traits
A package that ranks the SNPs using genomic, epigenomic and network based features.
Does gnomAD LOEUF constraint predict drug-target safety? A negative result: LOEUF measures genetic loss-of-function tolerance well and clinical safety of inhibition poorly.
Maps 145 type 1 diabetes GWAS loci to the pancreatic cell types they likely act in, using τ-based cell-type specificity across the HPAP single-cell RNA-seq atlas.
Reproducible variant interpretation across the human Na+/K+-ATPase alpha-subunit family (ATP1A1–ATP1A4): conservation, structure, ClinVar curation, gnomAD constraint and AlphaMissense, integrated without circular reasoning.
Summary of RefSeq transcript alignment issues with human reference genomes (hg19, hg38)
A Python tool for retrieving, analyzing, and visualizing clinically annotated genetic variants from the Ensembl REST API.
Chromosome X Evidence Atlas — ranked, evidence-scored catalog of chrX genetic associations across human traits
To associate your repository with the human-genetics topic, visit your repo's landing page and select "manage topics."