Sequencing a broader range of genes along with intronic and intergenic regions, with greater sensitivity for structural variation could be expected to “greatly improve the diagnostic rate, but the gains in this domain appear relatively muted,” wrote editorialists led by Dr. E Ashley. The findings of this study are intriguing, particularly the yield from “interrogating deep intronic variants…” and demonstrate the “potential incremental value of genome sequencing” in HCM, but there are several challenges remaining before this technology can be deployed. MORE
“Advances in Molecular Pathology provides readers with an in-depth review of the latest clinical advancements in seven subspecialty areas, which are Genetics, Hematopathology, Infectious Disease, Pharmacogenomics, Informatics, Solid Tumors, and Identity/HLA. MORE
Sequencing a broader range of genes along with intronic and intergenic regions, with greater sensitivity for structural variation could be expected to “greatly improve the diagnostic rate, but the gains in this domain appear relatively muted,” wrote editorialists led by Dr. E Ashley. The findings of this study are intriguing, particularly the yield from “interrogating deep intronic variants…” and demonstrate the “potential incremental value of genome sequencing” in HCM, but there are several challenges remaining before this technology can be deployed. MORE
This is an excellent update of the previous edition with a number of new authors and updated references. It is not a complete book on neonatal pulmonary medicine, although the lung development section is one of the best in the neonatal literature. MORE
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