Clinical Sequencing | GenomeWeb

Clinical Sequencing

Michael Snyder

Snyder's new book, "Genomics and Personalized Medicine," serves as a primer for patients and doctors, touching on topics from tailored cancer therapy to wearable devices.

The firm performed a long-term, prospective study and noted that the test improved outcomes for patients and helped doctors monitor patients with benign disease.

Low-coverage, whole-genome sequencing had a diagnostic yield of up to 53 percent in prenatal and postnatal samples referred for chromosomal analyses.

Both studies found that about 40 percent of pediatric cancer patients have mutations with potential clinical significance, either for diagnosis or treatment.

In a panel at this week's Personalized Medicine World Conference, executives and researchers discussed moving genomics into the promotion of lifetime health and prevention of disease.

Quantification of adaptive immune cell genomes in a complex mixture of cells
Methods and compositions for polynucleotide library production, immortalization and region of interest extraction
Compositions and methods for quantifying a nucleic acid sequence in a sample comprising a primer oligonucleotide with a 3’-terminal region comprising a 2’-modified nucleotide
Array-based translocation and rearrangement assays
Methods compositions, and kits comprising linker probes for quantifying polynucleotides

In Science this week: experts say race is not a sufficient proxy for studying human genetic diversity and more.

Technology Review writes that CRISPR/Cas9 gene editing firm Editas' success may hinge on a patent case.

Researchers unearthed a bioinformatics error in the Science paper reporting the first ancient African genome, and the authors are seeking an erratum.

A boy's cystic fibrosis carrier status was revealed by a teacher to the parents of children with CF who then sought the boy's transfer to another school, leading to a lawsuit.

Feb
25
Sponsored by
Omicia

This webinar will demonstrate how ACMG's recommended variant scoring and classification rules may be applied to standardize reporting on sequencing test results within and across institutions. 

Mar
03
Sponsored by
Agilent Technologies

This webinar will discuss the use of a hybrid capture-based FFPE DNA sequencing methodology with the potential for advancing precision oncology studies. 

Mar
17
Sponsored by
Qiagen

This webinar will discuss Qiagen's approach to address two challenges facing NGS in the clinical research setting: lack of seamless workflow for routine clinical research use and truly relevant content to guide clinical research activities.