Consider genomic sequencing, which has been touted as the essential tool needed to move medicine from standardized and reactive to personalized and preventive.
Not exact matches
His absorbing account details both the big business and the sometimes shaky science of
sequencing: He follows fledgling biotech start - ups and the big fish gobbling them up, and he faults personal
genomics companies for not
considering environment and lifestyle in their clients» genetic assessments.
Experience in operating or supervising infrastructures and core facilities in
genomics and high - throughput
sequencing at a high international level is
considered positively, as is leadership experience and a documented ability to foster research at a high international level.
Some
consider the utilization of
genomic sequencing in healthy individuals to be controversial; the short and long - term outcomes of providing
genomic sequencing information to healthy adults are not known and are of great interest.
Another reason to
consider personal
genomic sequencing is if a disease with a potential genetic component is present in other family members.
As clinicians begin to
consider whole - genome
sequencing, an understanding of the processes and tools involved and the factors to
consider in the annotation of the structure and function of
genomic elements that might influence variant identification is crucial.
Here, we discuss and illustrate the strengths and weaknesses of approaches for the annotation and classification of important elements of protein - coding genes, other
genomic elements such as pseudogenes and the non-coding genome, comparative -
genomic approaches for inferring gene function, and new technologies for aiding genome annotation, as a practical guide for clinicians when
considering pathogenic
sequence variation.