Ecosyste.ms: Repos

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: 264 MB - Last synced: about 21 hours ago - Pushed: 1 day ago - Stars: 1 - Forks: 0

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: 5 days ago - Pushed: 6 days 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: 14 days ago - Pushed: 14 days ago - Stars: 0 - Forks: 0

shobeirimajid/GenoPartake

Decentralized data market for GenoPharmatic information

Size: 2.93 KB - Last synced: 21 days ago - Pushed: almost 2 years ago - Stars: 2 - Forks: 0

brentp/echtvar

using all the bits for echt rapid variant annotation and filtering

Language: Rust - Size: 202 KB - Last synced: about 1 month ago - Pushed: 3 months ago - Stars: 130 - Forks: 9

single-cell-genetics/cellsnp-lite

Efficient genotyping bi-allelic SNPs on single cells

Language: C - Size: 824 KB - Last synced: about 2 months ago - Pushed: about 2 months ago - Stars: 115 - Forks: 11

single-cell-genetics/cellSNP

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

Language: Python - Size: 224 KB - Last synced: 17 days ago - Pushed: almost 2 years ago - Stars: 71 - Forks: 11

WeirauchLab/RELI

Regulatory Element Locus Intersection (RELI) Analysis

Language: C++ - Size: 225 KB - Last synced: 8 months ago - Pushed: over 3 years ago - Stars: 8 - Forks: 5

Raisa-NN/BINF-5354

Final Project - Post Genomic Analysis

Size: 986 KB - Last synced: 9 months ago - Pushed: almost 2 years ago - Stars: 0 - 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: 10 months ago - Pushed: about 6 years ago - Stars: 3 - Forks: 0

ronaldosfjunior/VarSleuth

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

Language: R - Size: 16.6 KB - Last synced: 11 months ago - Pushed: 11 months ago - Stars: 0 - Forks: 0

alexhaislip/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: about 1 year ago - Pushed: over 2 years ago - Stars: 2 - Forks: 0

zeyang-shen/maggie

Bioinformatic approach to identify functional transcription factor binding motifs

Language: Python - Size: 169 MB - Last synced: over 1 year ago - Pushed: about 2 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: about 2 months ago - Pushed: almost 4 years ago - Stars: 0 - Forks: 0

cx0/llm-for-clinical-variants

Data repository for NeurIPS 2022 LMRL workshop paper.

Language: Jupyter Notebook - Size: 17 MB - Last synced: about 1 year ago - Pushed: over 1 year 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: over 1 year ago - Pushed: over 4 years ago - Stars: 10 - Forks: 1

tkonopka/GeneticThesaurus

Thesaurus for genetic variants

Language: Java - Size: 1.2 MB - Last synced: 4 months ago - Pushed: over 6 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: about 1 month ago - Pushed: about 1 month 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: about 1 year ago - Pushed: over 2 years ago - Stars: 2 - Forks: 1

AlexiaJM/LEGIT

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

Language: R - Size: 2.25 MB - Last synced: 11 months ago - Pushed: over 3 years ago - Stars: 11 - Forks: 2

NavpreetDevpuri/DNAc

DNAc is a programming language for DNAs.

Size: 37.1 KB - Last synced: about 1 year ago - Pushed: almost 4 years ago - Stars: 1 - 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: over 1 year ago - Pushed: over 5 years ago - Stars: 3 - Forks: 0

Related Keywords
genetic-variants 22 genetics 5 bioinformatics 5 single-cell 3 genetic-analysis 3 genetic-programming 2 genetic-algorithm 2 clinvar 2 dna 2 genotyping 2 genomics 2 rna-seq 2 r 2 mysql 1 human-phenotype-ontology 1 genetic-testing 1 genereviews 1 gene-ontology 1 ctakes-clinical-pipeline 1 ctakes 1 variant-calling 1 thesaurus 1 repetitive-regions 1 genomic-regions 1 recurrent-neural-networks 1 embeddings 1 deep-neural-networks 1 deep-learning 1 protein-sequences 1 language-model 1 esm 1 clinical-application 1 regular-expressions 1 pandas 1 file-scraper 1 transcription-factors 1 motif-analysis 1 dna-sequences 1 shell 1 rna-seq-data 1 pipeline 1 map-eqtl 1 genetic-programming-algorithm 1 dna-sequence 1 dna-processing 1 dna-methylation 1 dna-assembly 1 latent-variables 1 latent-variable-models 1 interactions 1 gxe-modelling 1 gxe 1 glm 1 environment 1 psychiatry 1 connectivity 1 unified-medical-language-system 1 umls 1 sql 1 snomed-ct 1 pubmed 1 phenotypes 1 ncbi 1 prostate-cancer 1 exploratory-data-analysis 1 gsl 1 disease 1 chip-seq 1 c-plus-plus-11 1 c-plus-plus 1 analysis 1 genomics-data 1 variant-annotations 1 variant-analysis 1 phylogenetics 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 manifold-learning 1 geneticalgorithm 1 variational-autoencoder 1 genetic-optimization-algorithm 1 genetic-algorithms 1 genetic-algorithm-framework 1 allelic-imbalance 1 genetic 1 vcf-files 1 vcf 1 rare-variant-analysis 1 r-package 1