This manuscript discusses the different challenges associated with integrating genomic technologies into clinical practice and describes a "phenotype-first" approach, namely, "Individualized Mutation-weighed Phenotype Search", and its benefits.
ES, Exome Sequencing; WGS, Whole Genome Sequencing; I-MPOS, Individualized Mutation-weighed Phenotype On-line Search I-MPOSEE, Individualized Mutation-weighed Phenotype On-line Search Engine.
The "Individualized Mutation-weighed Phenotype Search" approach allows for an incremental integration of genomic technologies into clinical practice.
After obtaining authorization, the clinician can temporarily and anonymously upload the patient's encrypted data to a search engine, namely, Individualized Mutation-weighed Phenotype On-line Search Engine I-MPOSEE).
This manuscript proposes a new approach, Individualized Mutation-weighed Phenotype On-line Search I-MPOSS), which can help properly integrate genomic technologies in everyday clinical practice in the immediate future.
ES: Exome Sequencing; VCF: Variant Call Format; HGMD Humann Gene Mutation Database; HPO: Human Phenotype Ontology; I-MPOS: Individualized Mutation-weighed Phenotype On-line Search OMIMM: Online Mendelian Inheritance in Man.
This manuscript discusses a "phenotype-first" approach, namely, Individualized Mutation-weighed Phenotype Search I-MPOSS), which could potentially render widespread use of ES/WGS, in the immediate future, practical, ethical and clinically useful.
This approach, namely Individualized Mutation-weighed Phenotype On-line Search I-MPOSS), aims to address the above mentioned issues and facilitate widespread clinical utilization of ES.
Fifth, if classes I and V are relatively well individualized, with genes whose mutations are generally mutually exclusive, the definition of the other classes may evolve.
The other is the rare mutation hypothesis, which proposes that schizophrenia is caused by rare mutations with a high clinical penetrance, and the pathogenic mutation is highly individualized in each affected patient or family [27].
