An open API service providing repository metadata for many open source software ecosystems.

GitHub topics: genetic-variants

StatBiomed/SNPmanifold

Manifold learning for single-cell single-nucleotide genetic variations

Language: Jupyter Notebook - Size: 388 MB - Last synced at: 5 days ago - Pushed at: 5 days ago - Stars: 3 - Forks: 0

hastingslab-org/Variantscape

LLM-based variant extraction from title and abstracts of biomedical publications. Search literature-derived co-associations between variants, cancers, and treatments

Language: Jupyter Notebook - Size: 1.39 MB - Last synced at: 6 days ago - Pushed at: 6 days ago - Stars: 0 - Forks: 0

bowang-lab/genomic-FM

Language: Python - Size: 2.52 MB - Last synced at: 10 days ago - Pushed at: 10 days ago - Stars: 23 - Forks: 3

brentp/echtvar

using all the bits for echt rapid variant annotation and filtering

Language: Rust - Size: 214 KB - Last synced at: about 1 month ago - Pushed at: about 2 months ago - Stars: 151 - Forks: 10

single-cell-genetics/cellSNP

Pileup biallelic SNPs from single-cell and bulk RNA-seq data

Language: Python - Size: 224 KB - Last synced at: 27 days ago - Pushed at: almost 3 years ago - Stars: 77 - Forks: 11

single-cell-genetics/cellsnp-lite

Efficient genotyping bi-allelic SNPs on single cells

Language: C - Size: 890 KB - Last synced at: 11 months ago - Pushed at: 11 months ago - Stars: 123 - Forks: 11

gitikabhardwaj/Genomic-Data-Exploration-Visualizing-Genetic-Variants-and-Allelic-Imbalance

Advanced bioinformatics analysis of RNA sequencing data and genomic databases using R. Explore allelic imbalances, SNP variants, and phylogenetic trees to uncover genetic insights and visualize complex data interactions.

Language: R - Size: 80.1 KB - Last synced at: 11 months ago - Pushed at: 11 months ago - Stars: 0 - Forks: 0

TheOrangeBraincell/DetectSpliceVariant

Repository for method to analyse the relationship between germline variants and somatic mutations and alternative splicing in breast cancer patients based on RNA-Seq data,

Language: Python - Size: 390 KB - Last synced at: 12 months ago - Pushed at: 12 months ago - Stars: 0 - Forks: 0

shobeirimajid/GenoPartake

Decentralized data market for GenoPharmatic information

Size: 2.93 KB - Last synced at: 12 months ago - Pushed at: over 2 years ago - Stars: 2 - Forks: 0

cx0/llm-for-clinical-variants

Data repository for NeurIPS 2022 LMRL workshop paper.

Language: Jupyter Notebook - Size: 17 MB - Last synced at: 2 days ago - Pushed at: over 2 years ago - Stars: 2 - Forks: 0

WeirauchLab/RELI

Regulatory Element Locus Intersection (RELI) Analysis

Language: C++ - Size: 225 KB - Last synced at: over 1 year ago - Pushed at: over 4 years ago - Stars: 8 - Forks: 5

Raisa-NN/BINF-5354

Final Project - Post Genomic Analysis

Size: 986 KB - Last synced at: over 1 year ago - Pushed at: almost 3 years ago - Stars: 0 - Forks: 0

AlexiaJM/LEGIT

An R package for the Latent Environmental & Genetic InTeraction (LEGIT) model

Language: R - Size: 2.25 MB - Last synced at: 26 days ago - Pushed at: about 4 years ago - Stars: 12 - Forks: 2

ronaldosfjunior/VarSleuth

An R package for interpreting genetic variants according to the ACMG guidelines.

Language: R - Size: 16.6 KB - Last synced at: almost 2 years ago - Pushed at: almost 2 years ago - Stars: 0 - Forks: 0

alexnaughtonjr/Oden_Biohacking

At The ODIN, we believe the future is going to be dominated by genetic engineering and consumer genetic design will be a big part of that. We are making that happen by creating kits and tools that allow anyone to make unique and usable organisms at home or in a lab or anywhere.

Size: 1.95 KB - Last synced at: 21 days ago - Pushed at: over 3 years ago - Stars: 3 - Forks: 0

zeyang-shen/maggie

Bioinformatic approach to identify functional transcription factor binding motifs

Language: Python - Size: 169 MB - Last synced at: about 2 years ago - Pushed at: almost 3 years ago - Stars: 7 - Forks: 0

dcchang/gene-variant-extractor 📦

Extracting gene variants from supplemental data files of human genomics research articles.

Language: Python - Size: 61 MB - Last synced at: about 1 year ago - Pushed at: almost 5 years ago - Stars: 0 - Forks: 0

rezacsedu/Convolutional-embedded-networks

Convolutional Embedded Networks for Population Scale Clustering and Bio-ancestry Inferencing

Language: Python - Size: 376 KB - Last synced at: about 2 years ago - Pushed at: over 5 years ago - Stars: 10 - Forks: 1

tkonopka/GeneticThesaurus

Thesaurus for genetic variants

Language: Java - Size: 1.2 MB - Last synced at: about 1 year ago - Pushed at: about 7 years ago - Stars: 8 - Forks: 1

comorbidity/medgen-umls

NCBI Medical Genetics, UMLS Unified Medical Language System Concepts and PubMed linked citations

Language: Shell - Size: 5.17 MB - Last synced at: about 1 year ago - Pushed at: about 1 year ago - Stars: 0 - Forks: 0

claramoreau9/NeuropsychiatricCNVs_Connectivity

The general impact of haploinsufficiency on brain connectivity underlies the pleiotropic effect of neuropsychiatric CNVs

Language: R - Size: 38.8 MB - Last synced at: almost 2 years ago - Pushed at: over 3 years ago - Stars: 2 - Forks: 1

NavpreetDevpuri/DNAc

DNAc is a programming language for DNAs.

Size: 37.1 KB - Last synced at: 7 months ago - Pushed at: over 4 years ago - Stars: 1 - Forks: 0

mframpton/transplot

The transplot package can be used to make multi-track plots of Next Generation Sequencing (NGS) data for gene transcripts, namely for depth of coverage and for the distribution of variants and protein domains.

Language: Python - Size: 888 KB - Last synced at: 5 days ago - Pushed at: almost 7 years ago - Stars: 3 - Forks: 0

tAndreani/RNAseQTL

Collection of scripts to map eQTL with RNAseq Data and Genotype by Sequencing

Language: R - Size: 17.6 KB - Last synced at: about 2 years ago - Pushed at: about 6 years ago - Stars: 3 - Forks: 0

Related Keywords
genetic-variants 24 genetics 5 bioinformatics 5 single-cell 3 genetic-analysis 3 genetic-algorithm 2 clinvar 2 dna 2 genomics 2 genetic-programming 2 genotyping 2 rna-seq 2 r 2 shell 1 deep-neural-networks 1 embeddings 1 recurrent-neural-networks 1 genomic-regions 1 repetitive-regions 1 thesaurus 1 variant-calling 1 ctakes 1 ctakes-clinical-pipeline 1 gene-ontology 1 deep-learning 1 regular-expressions 1 pandas 1 file-scraper 1 transcription-factors 1 motif-analysis 1 dna-sequences 1 geneticalgorithm 1 genetic-optimization-algorithm 1 genetic-algorithms 1 genetic-algorithm-framework 1 genetic 1 vcf-files 1 rna-seq-data 1 pipeline 1 map-eqtl 1 visualization 1 proteins 1 next-generation-sequencing 1 exome-sequencing 1 coverage 1 genetic-programming-algorithm 1 dna-sequence 1 dna-processing 1 dna-methylation 1 dna-assembly 1 psychiatry 1 connectivity 1 unified-medical-language-system 1 umls 1 sql 1 snomed-ct 1 pubmed 1 phenotypes 1 ncbi 1 mysql 1 human-phenotype-ontology 1 genetic-testing 1 genereviews 1 vcf 1 clinical-application 1 solidity 1 smart-contracts 1 medicine-applications 1 ipfs-blockchain 1 ethereum 1 decentralized-storage 1 dapp 1 blockchain 1 transcriptomics 1 breast-cancer 1 alternative-splicing 1 snps 1 rnaseq 1 phylogenetics 1 genomics-data 1 data-visualization 1 computational-biology 1 allelic-imbalance 1 variant-annotations 1 variant-analysis 1 foundation-models 1 oncology 1 largelanguagemodels 1 variational-autoencoder 1 manifold-learning 1 rare-variant-analysis 1 r-package 1 hgmd 1 gnomad 1 genetic-diseases 1 genetic-diagnosis 1 acmg-guidelines 1 acmg 1 latent-variables 1 latent-variable-models 1