Sentences with phrase «clinical sequencing»
Clinical sequencing refers to the process of analyzing a person's DNA to identify any genetic variations or mutations that could potentially cause medical conditions or diseases. It is done in a controlled and scientific environment, like a laboratory, to provide insights about the individual's health and help doctors make more informed decisions about their care. Full definition
The first clinical sequencing projects are also grappling with what they should or shouldn't tell patients.
scientificamerican.com
But clinical sequencing projects vary in their approach to incidental results.
At ASHG 2015, this plenary session is a discussion with meeting attendees about perceptions of clinical sequencing in the US and the EU.
Clinical sequencing facilities (KTH / Karolinska Institutet) in Stockholm, as well as at Uppsala University, University of Gothenburg and Lund University.
However, he added, «At $ 80,000 a pop, the price is not yet right today for clinical sequencing of human genomes using the long reads.
In recent years, reports from several clinical sequencing laboratories have suggested that a large fraction of successfully diagnosed cases have a de novo mutation (present in the patient, absent from both parents) in a dominant disease gene.
It will focus its initial clinical sequencing efforts on cancer, teaming up with the Moores Cancer Center at the University of California, San Diego to sequence the genomes of every patient who is treated there, as well as perform a full genome sequence on their tumors.
Individualized actions were taken in 23 of the 91 (25 percent) based on clinical sequencing findings, including change in treatment for 14 patients (15 percent) and genetic counseling for 9 patients (10 percent).
Scientists and clinicians hope that the lessons learned in these initial large - scale clinical sequencing projects will inform genomic medicine as it reaches more patients and moves to other specialties, such as neurology and cardiology, and even to routine health care.
Over the summer, I wrote a post emphasizing the importance of clinical sequence data sharing in repositories like the ClinSeq database, which has already proven life - saving (or life - changing) for thousands of patients and their families.
Funding: National Institutes of Health Clinical Sequencing Exploratory Research Award 1UM1HG006508, the Prostate Cancer Foundation, Good Charity Inc., and gifts from Tim Wadhams and the Raymond and Eva Shapiro family.
Good clinicians can typically push those aside and push through clinical sequences they have not only trained their minds to recall, but also their muscles to memorize in such scenarios.
By the end of this year, hundreds of children with unexplained forms of intellectual disability and developmental delay will have had their genomes decoded as part of the first large - scale, national clinical sequencing projects.
«Clinical sequencing technology identifies new targets in diverse cancers.»
As clinical sequencing becomes more common, pretest counseling will become more impractical and «lack of standardization and its application to patients of all circumstances might result in deeply varying levels of truly informed preference setting,» the group reasoned.
These data — available openly to the global scientific community via NCBI GenBank, along with corresponding sample data — more than doubles the mumps clinical sequence data available to the public.
Specifically, the ACMG recommended that laboratories conducting clinical sequencing should seek and report mutations of specified classes in 56 genes.
As highlighted in the final print issue of Genome Technology, investigators leading clinical sequencing efforts have faced ethical dilemmas already, such as the return of genetic information to family members in the event that a patient dies.
That's a massive clinical sequencing operation.
As Scientific Director of Clinical NGS in the Molecular Diagnostics Service, he oversees the development and bioinformatics associated with clinical sequencing assays, and he helped lead the implementation and validation of a robust molecular profiling platform (MSK - IMPACTTM) and accompanying analytical framework for use in real - time patient management.
AllSeq: Do you think clinical sequencing will be dominated by «point of care» (POC) devices or by more centralized services?
As a partner of the Precision Medicine Leaders Summit, we're interviewing Alex Dickinson on his views about clinical sequencing.
The HudsonAlpha Clinical Services Lab was the first in the world to become CAP - accredited and CLIA certified for clinical sequencing of whole genomes.
«It's difficult to make contrived samples behave like actual cell - free nucleic acids, so that's been quite a challenge,» says Kelli Bramlett, director of R&D in clinical sequencing and oncology at Thermo Fisher Scientific in Waltham, Massachusetts.
«Large - scale clinical sequencing and molecular profiling can better inform collaborative programs such as the National Cancer Institute - Children's Oncology Group Pediatric MATCH clinical trials and the Pacific Neuro - Oncology Consortium.
Wednesday, Oct. 7, 8:45 - 9:45 am, Hall F Building Bridges Session: Barriers and drivers for the implementation of clinical sequencing: An international discussion Moderator: Chris Gunter, ASHG 2015 Program Chair
He recently shared his views with us on clinical sequencing and liquid biopsies.
Recently, he established the Clinical Sequencing Facility, a collaboration between SciLifeLab, Uppsala University, and Uppsala University Hospital, which is focused on translating next - generation sequencing into clinical diagnostics.
Dr. Rosenquist Brandell is professor of molecular hematology in the Department of Immunology, Genetics and Pathology at Uppsala University, senior physician with the clinical genetics unit at Uppsala University Hospital, and platform director for the Clinical Sequencing Facility within the Science for Life Laboratory (SciLifeLab), Uppsala.
Perhaps most importantly, the ACMG recommends that mutations in these genes should be reported «regardless of the indication for which the clinical sequencing was ordered.»
In other words, clinical sequencing may uncover secondary predispositions that are unrelated to the reason that you underwent sequencing in the first place.
The task for the directors will be to unify and link the currently separate Genomics and high - throughput sequencing facilities at SciLifeLab under a single platform, including the National Genomics Infrastructure (NGI), single cells technologies, clinical sequencing, ancient DNA, genome engineering and bioinformatics.
At MCW, he was the director of the Clinical Sequencing Laboratory at Medical College of Wisconsin, director of the Advanced Genomics Laboratory at Children's Hospital of Wisconsin, medical director of the Genetics Clinic at Children's Hospital of Wisconsin, and chief of the division of genetics in the department of pediatrics at MCW.
Our students are supervised in their clinical sequence by experienced school counselors who have completed a graduate course in Clinical Supervision of School Counseling Students at William & Mary.
My appointment to the State of Connecticut Task Force for helping struggling readers in Connecticut grades four to nine is beneficial to our department particularly in informing our curriculum and instruction in the clinical sequence — diagnosis and remediation in reading and language arts.