International evidence to inform decision making on implementing urgent response social protection measures.

This paper summarises evidence from a rapid review of international findings on the effects of cash transfers. The learnings were used to inform the design of urgent response social protection during the COVID-19 pandemic. The summary demonstrates that in response to widespread disruption, cash transfers have broad benefits for children, adults, and the wider economy.

Novel Approaches to Develop Critical Reference Materials for Noninvasive Prenatal Testing: A Pilot Study.

Background: Highly characterized reference materials are required to expand noninvasive prenatal testing (NIPT) for low incidence aneuploidies and microdeletions. The goal of this study was to develop reference materials for the development of next generation circulating cell-free DNA (ccfDNA) assays.

Methods: This was a prospective study of pregnancies complicated by positive prenatal genetic screening.

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.

Purpose: To evaluate the impact of technically challenging variants on the implementation, validation, and diagnostic yield of commonly used clinical genetic tests. Such variants include large indels, small copy-number variants (CNVs), complex alterations, and variants in low-complexity or segmentally duplicated regions.

Methods: An interlaboratory pilot study used synthetic specimens to assess detection of challenging variant types by various next-generation sequencing (NGS)-based workflows.