Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the landscape …

INTRODUCTION The DNA of protein-coding genes is transcribed into mRNA, which is
translated into proteins. The “coding genome” describes the DNA that contains the information to …

Genomic association studies of common or rare protein-coding variation have established
robust statistical approaches to account for multiple testing. Here we present a comparable …

X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease that is
endemic to the Philippines and is associated with a founder haplotype. We integrated multiple …

Background Structural variation (SV) influences genome organization and contributes to
human disease. However, the complete mutational spectrum of SV has not been routinely …

Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often
accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed …

Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) in wastewater has been
used to track community infections of coronavirus disease-2019 (COVID-19), providing critical …

High-Resolution and Noninvasive Fetal Exome Screening Page 1 The new england journal
of medicine n engl j med 389;21 nejm.org November 23, 2023 Correspondence High-Resolution …

Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic
approach for the assessment of autism spectrum disorder (ASD) and fetal structural …

Methods of wastewater concentration (electronegative filtration (ENF) versus magnetic bead-based
concentration (MBC)) were compared for the analysis of severe acute respiratory …