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README

Calling for de novo mutations

Sequenced Data

The variation data for patients reported in this paper have been deposited in the Genome Variation Map (GVM) in National Genomics Data Center, Beijing Institute of Genomics, Chinese Academy of Sciences, and China National Center for Bioinformation, under accession number GVM000497. Variants of control cohort used in this study were generated by HuaBiao project and can be obtained from https://www.biosino.org/wepd/.

Scripts and Supplementary Information

  • AnalysisPipeline: Analysis pipeline.
  • DeNovoCallScripts: Calling de novo mtations pipeline.
  • ExpressionFile: Single cell expression data (female fetal germ cell, follicle, maturation oocyte and early embryo).
  • GOTerms: GO terms.
  • ProteinStructure: Protein structure predicted by AlphaFold2.
  • PublicControlDenovoGenes:Puclic de novo mutation genes.
  • ScriptForPlot: Scripts for plot.
  • sangerSequencing: Raw sanger sequencing data.

Contact

Data are available on reasonable request. The main data relevant to the study are included in the article or uploaded as supplementary information. liqun95@163.com or 20111510021@fudan.edu.cn

Citation

Li, Q., Zhao, L., Zeng, Y. et al. Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects. Genome Biol 24, 68 (2023). https://doi.org/10.1186/s13059-023-02894-0

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