Whole-genome sequencing for HCM screening

Whole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis

Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is dif...

Newborn screening by whole-genome sequencing: ready for prime time?

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Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing.

BACKGROUND AND OBJECTIVE The potential application of whole-genome sequencing (WGS) to state-mandated standard newborn screening (NBS) challenges the traditional public health approach to NBS and raises ethical, policy, and clinical practice issues. This article examines the perspectives and values of diverse healthy pregnant women and parents of children diagnosed with a primary immunodeficien...

Newborn screening: adapting to advancements in whole-genome sequencing.

September is newborn screening awareness month. Since 1963, state public health programs have screened newborns for a number of life-altering health conditions. Many of these disorders are rare and genetic, and if caught in the first weeks of life they can be treated or managed to prevent death or a lifetime of disability. Early detection can also help families avoid the lengthy and stressful ‘...

Newborn screening: from Guthrie to whole genome sequencing.