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 70

• 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 45
• tagore

  jordanlab / tagore

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

  bioinformaticsapplied-bioinformatics-labhuman-geneticschromosomevisualizationideogram
  Language:Python 42

• damianosmel / GenOtoScope

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

  acmg-guidelinesbioinformaticshearing-losshuman-geneticspathogenicity-classificationresearch-onlyvariant
  Language:Python 10

• 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

  cox-phcox-modelcox-regressionsurvival-analysissurvival-predictioncpumultiresponse-sparse-regressionhuman-geneticsbiobank
  Language:R 4

• pfenninglab / Zoonomia_Cell-TACIT_fine-mapping

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

  comparative-genomicsenhancersepigeneticsevolutiongenomicshuman-geneticsneuropsychiatric-disorderssubstance-use-disorder
  Language:Jupyter Notebook 1

• 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

  bioinformaticspopulation-genomicspopulation-geneticshuman-geneticsplink
  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

• belowlab / compadre

  IBD-based pedigree generation software, built on top of and maximizing utility from the tools PRIMUS and ERSA

  bioinformaticscomputational-geneticsgeneticsperlpythonrelatednessidentity-by-descentpedigreesbiobank-datahuman-geneticspopulation-geneticsbig-data
  Language:Perl

• EhsanTamandeh / NetPolyGen

  A Systematic Analysis of Gene-Gene Interaction Networks Underlying Human Polygenic Phenotypes

  complex-diseasescomplex-traitscomputational-biologyevolutiongene-gene-interactionhuman-geneticsgene-interaction-networkspolygenic-phenotypes

• limbus-medtec / transcript-info

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

  alignmentbioinformaticshuman-geneticstranscription