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Quantifying the contribution of recessive coding variation to developmental disorders

Hilary C Martin1, Wendy D Jones2,3, Rebecca McIntyre2

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. hcm@sanger.ac.uk jeff.barrett@genomicsplc.com.

Science (New York, N.Y.)
|November 10, 2018
PubMed
Summary

Recessive coding variants contribute minimally to developmental disorders in most families, but are significant in consanguineous populations. New genes like KDM5B and EIF3F were identified, highlighting the need for further genetic research.

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