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    14 repositories

    • aneuploidyRates

      Public
      A repository for an R package that estimates the meiotic and mitotic aneuploidy rates of an embryo
      R
      •
      GNU General Public License v3.0
      •0•0•0•1•Updated Nov 16, 2024Nov 16, 2024

    • hgv_modules

      Public
      Teaching modules for Human Genome Variation Lab.
      R
      •
      Creative Commons Attribution 4.0 International
      •3•19•0•0•Updated Jul 31, 2024Jul 31, 2024

    • MAGE

      Public
      Analysis of gene expression and splicing diversity in a subset of samples from the 1000 Genomes Project, including eQTL and sQTL discovery and annotation.
      R
      •3•32•0•0•Updated Jul 19, 2024Jul 19, 2024

    • LD-CHASE

      Public
      A tool for linkage disequilibrium-informed comparison of haplotypes among sibling embryos.
      Python
      •0•4•0•0•Updated Oct 13, 2023Oct 13, 2023

    • transmission-distortion

      Public
      Analysis scripts for "A method for low-coverage single-gamete sequence analysis demonstrates adherence to Mendel's first law across a large sample of human sperm" https://elifesciences.org/articles/76383
      spermsingle-cellhaploid
      R
      •0•1•0•0•Updated Aug 21, 2023Aug 21, 2023

    • t2t-variants

      Public
      Code associated with the manuscript "A complete reference genome improves analysis of human genetic variation".
      R
      •3•17•1•0•Updated Jan 17, 2023Jan 17, 2023

    • CSHL_seqtec_2022

      Public
      Jupyter Notebook
      •0•0•0•0•Updated Nov 18, 2022Nov 18, 2022

    • pot1_ch_2022

      Public
      Code for DeBoy & Tassia et al., Familial clonal hematopoiesis in a long telomere syndrome.
      Shell
      •0•0•0•0•Updated Nov 1, 2022Nov 1, 2022

    • LD-PGTA

      Public
      Linkage disequlibrium-informed PGT-A (LD-PGTA). A package for detecting genotypic signatures of aneuploidy from extremely low-coverage sequence data.
      bioinformaticssequencingngs-analysiscnv-detection
      Python
      •
      MIT License
      •0•16•1•0•Updated Oct 10, 2022Oct 10, 2022

    • rhapsodi

      Public
      R haploid sperm/oocyte data imputation (rhapsodi). A package for analysis of low-coverage single-cell sequencing data from multiple gametes.
      bioinformaticshaploid
      R
      •
      Other
      •0•4•0•0•Updated Jul 25, 2022Jul 25, 2022

    • embryo_arrest

      Public
      Meiotic and mitotic aneuploidies drive preimplantation mortality of in vitro fertilized human embryos
      R
      •
      MIT License
      •0•2•0•0•Updated Jul 2, 2022Jul 2, 2022

    • sv_selection

      Public
      Code for Yan et al., "Local adaptation and archaic introgression shape global diversity at human structural variant loci."
      R
      •2•5•0•0•Updated Aug 23, 2021Aug 23, 2021

    • aneuploidy_scrnaseq

      Public
      Detection of aneuploidy using scRNA-seq data from human embryos.
      R
      •3•6•0•0•Updated Feb 4, 2021Feb 4, 2021

    • sQTLviz

      Public
      visualising LeafCutter sQTLs by genotype
      R
      •6•0•0•0•Updated Feb 19, 2019Feb 19, 2019