human-genetics

There are 0 repository under human-genetics topic.

• kishwarshafin / helen

  H.E.L.E.N. (Homopolymer Encoded Long-read Error-corrector for Nanopore)

  genome-assemblygenomic-data-analysishuman-geneticsgenome-scale-modelsoxford-nanoporegenome-analysisgenome-sequencinggenomesgenomics
  Language:Python 68

• shishenyxx / DeepMosaic

  DeepMosaic is a deep-learning-based mosaic single nucleotide classification tool without the need of matched control information.

  bioinformaticsdeep-learninghuman-geneticsmosaic-mutation
  Language:Python 41
• tagore

  jordanlab / tagore

  The script presents a simple way to visualize features on human chromosome ideograms

  applied-bioinformatics-labbioinformaticschromosomehuman-geneticsideogramvisualization
  Language:Python 35

• damianosmel / GenOtoScope

  Automated ACMG/AMP classification for human variants associated with congenital hearing loss

  acmg-guidelinesbioinformaticshearing-losshuman-geneticspathogenicity-classificationresearch-onlyvariant
  Language:Python 7

• acostauribe / genetic-data-QC

  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

  genetic-datahuman-geneticsquality-control
  Language:Shell 5
• multisnpnet-Cox

  rivas-lab / multisnpnet-Cox

  Multiresponse time-to-event Cox proportional hazards model - CPU

  biobankcox-modelcox-phcox-regressioncpuhuman-geneticsmultiresponse-sparse-regressionsurvival-analysissurvival-prediction
  Language:R 3

• gatoravi / denovogear-legacy

  Statistical model to detect de-novo mutations using sequencing data from trios and pairs.

  human-geneticsmutations
  Language:C++ 2

• tanlabcode / arvin

  A package that ranks the SNPs using genomic, epigenomic and network based features.

  human-geneticsnoncoding-mutationsregulatory-network
  Language:Perl 1

• epsalazarf / AdmixrPlus

  A modification to Sikora's admixr to make it more accesible

  bioinformaticshuman-geneticsplinkpopulation-geneticspopulation-genomics
  Language:R 0

• epsalazarf / aDNAxRefPanel

  A pipeline to merge ancient DNA sequencing data with modern genotyping data

  bioinformaticspopulation-geneticshuman-geneticsancient-dna-sequencesgenotype-data
  Language:Perl 0

• pfenninglab / Zoonomia_Cell-TACIT_fine-mapping

  Machine learning models of conserved regulatory elements and human genetics of neuropsychiatric traits

  genomicsenhancersepigeneticsevolutioncomparative-genomicshuman-geneticsneuropsychiatric-disorderssubstance-use-disorder
  Language:Jupyter Notebook 0

• limbus-medtec / transcript-info

  Summary of RefSeq transcript alignment issues with human reference genomes (hg19, hg38)

  alignmentbioinformaticshuman-geneticstranscription