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Cited by 23Genomics and Rare DiseasesMetabolism and Genetic DisordersConnective tissue disorders research

Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases

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Yu, Hui, Zhang, Victor Wei·2015·BioMed Research International
DOI 10.1155/2015/745043PMC PMC4475565
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Abstract

Determining the exact genetic causes for a patient and providing definite molecular diagnoses are core elements of precision medicine. Individualized patient care is often limited by our current knowledge of disease etiologies and commonly used phenotypic-based diagnostic approach. The broad and incompletely understood phenotypic spectrum of a disease and various underlying genetic heterogeneity also present extra challenges to our clinical practice. With the rapid adaptation of new sequence technology in clinical setting for diagnostic purpose, phenotypic expansions of disease spectrum are becoming increasingly common. Understanding the underlying molecular mechanisms will help us to integrate genomic information into the workup of individualized patient care and make better clinical decisions.

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Cited by

Sorted by citations

Authors
Yu, H., & Zhang, V. W.
Affiliations
Baylor College of Medicine (US)
Corresponding author
Zhang, Victor Wei
ORCID
Venue
BioMed Research International
Publisher
Hindawi Limited
Published
2015
Volume
2015
Pages
1-4
ISSN
  • 1110-7243 (ISSN-L)
  • 2314-6133
  • 2314-6141
DOI
10.1155/2015/745043
PMC
PMC4475565
OpenAlex
W1607923105
Cited by
23
References
0
Citations by year
2026: 2 · 2025: 2 · 2022: 1 · 2021: 4 · 2019: 1 · 2018: 4 · 2017: 3 · 2016: 5 · 2015: 1
FWCI
0.55
Type
journal article
Language
en
Open access
Licence
Locations
  • BioMed Research International (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Keywords
precision medicine, genetic disorders, genetic heterogeneity, molecular diagnosis, clinical sequencing, etiology, molecular mechanisms, individualized care
MeSH terms
Humans, Phenotype, Genome, Human, Genomics, Genetic Diseases, Inborn, Precision Medicine

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