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Compiled by Ryan Leung:

  1. Building Genomic Analysis Pipelines in a Hackathon Setting with Bioinformatician Teams: DNA-seq, Epigenomics, Metagenomics and RNA-seq.

  2. Diagnostic Clinical Genome and Exome Sequencing.

  3. Massively parallel sequencing and rare disease.

  4. Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders.

  5. A genome-wide perspective of genetic variation in human metabolism.

  6. The Genetic Basis of Metabolic Disease.

  7. Inborn variation in metabolism.

  8. Biochemical diagnosis of mitochondrial disorders.

  9. Using the reconstructed genome-scale human metabolic network to study physiology and pathology.

  10. The NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism.

  11. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

  12. Rare-disease genetics in the era of next-generation sequencing: discovery to translation

  13. Rare genetic diseases: update on diagnosis, treatment and online resources

  14. Standards and guidelines for the interpretation of sequence variants

  15. Massively parallel sequencing and rare disease

  16. Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

  17. Clinical phenotype-based gene prioritization


  1. Public data archives for genomic structural variation

  2. Genome variation: a review of Web resources

  3. Google Cloud Genomics Public Datasets

Community Submitted:

7 under-diagnosed diseases to consider before hunting Zebras.


Created by Lily Vittayarukskul:

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