Recent Clinical Sequencing Papers of Note | GenomeWeb

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
Shimojima K, Okumura A, Ikeno M, Nishimura A, et al.
Brain Dev. 2014 Jun 26. [Epub ahead of print]

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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.