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Uncovering Missing Heritability in Rare Diseases.

Tatiana Maroilley1,2, Maja Tarailo-Graovac3,4

  • 1Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada. tatiana.maroilley@ucalgary.ca.

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|April 17, 2019
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Summary

The missing heritability problem persists in rare diseases (RDs), despite advances in genetic testing. High-throughput sequencing, especially whole genome sequencing, is crucial for uncovering genetic causes and improving diagnosis for RDs.

Keywords:
bioinformaticsgenome sequencinglong/short read sequencingmissing heritabilityrare diseasevariant annotationvariant detectionvariation databases

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Area of Science:

  • Genetics
  • Genomics
  • Bioinformatics

Background:

  • The 'missing heritability' problem, where genetic factors for diseases remain undiscovered, affects both common and rare diseases (RDs).
  • RDs present unique challenges due to their low individual prevalence and complex genetic/phenotypic characteristics, complicating the identification of causative genetic variants.
  • While traditional genetic testing identified causes for ~10% of RDs, modern genome-wide approaches have increased this to ~40%, yet a significant gap remains.

Purpose of the Study:

  • To review the critical role of high-throughput sequencing, particularly whole genome sequencing, in identifying genetic underpinnings of rare diseases.
  • To discuss current advancements and persistent challenges in sequencing technologies, bioinformatics, and data resources relevant to RD genetics.

Main Methods:

  • Review of current literature on high-throughput sequencing technologies and their application in rare disease research.
  • Analysis of bioinformatics approaches and available resources for genetic variant discovery and interpretation in rare diseases.

Main Results:

  • High-throughput sequencing has significantly improved the diagnostic yield for rare diseases, increasing the identification rate of causative genetic variants.
  • Despite advancements, the 'missing heritability' problem persists in RDs, highlighting the need for further technological and analytical improvements.
  • Whole genome sequencing offers a comprehensive approach to uncover complex genetic architectures underlying rare diseases.

Conclusions:

  • High-throughput sequencing is indispensable for advancing rare disease genetics, accelerating discovery and diagnosis.
  • Addressing the remaining 'missing heritability' in RDs requires continued innovation in sequencing technology, bioinformatics, and data sharing.
  • Improved genetic understanding of RDs is essential for enhancing patient care and developing targeted therapies.