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Single Sperm Sequencing Assay for Prediction of Autism Risk

Single cell sperm sequencing assay for offspring disease risk assessments and IVF sperm sampling procedures

Background

  • Investigating RNA and mutations in sperm is an important tool for predicting risk of diseases such as autism spectrum disorders (ASD), which have been correlated with advanced paternal age
  • Most studies have focused on the assessment of bulk sperm, where only high-frequency variants are detected
  • Single-cell RNA sequencing (scRNA-seq) allows for the discovery and investigation of many cellular subtypes, but is difficult to apply to human germline tissues due to transcriptional and morphological differences from somatic cells
  • Unmet Need: Methods to analyze sperm on a single-cell level to improve prediction of ASD and other diseases

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