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Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.

Ren-Juan ShenJun-Gang WangYang LiZi-Bing Jin
Published in: Orphanet journal of rare diseases (2021)
The genetic etiology in consanguineous families with IRD were successfully identified using consanguinity-based analysis of exome sequencing data, suggesting that this approach could provide complementary insights into genetic diagnoses in consanguineous families with variant genetic disorders.
Keyphrases
  • copy number
  • genome wide
  • single cell
  • diabetic retinopathy
  • big data
  • deep learning
  • artificial intelligence