Our genomes influence nearly every aspect of human biology—from molecular and cellular
functions to phenotypes in health and disease. Studying the differences in DNA sequence …

This perspective focuses on advances in genome technology over the last 25 years and
their impact on germline variant discovery within the field of human genetics. The field has …

Fewer than half of individuals with a suspected Mendelian or monogenic condition receive a
precise molecular diagnosis after comprehensive clinical genetic testing. Improvements in …

Despite large sequencing and data sharing efforts, previously characterized pathogenic
variants only account for a fraction of Mendelian disease patients, which highlights the need …

More than 50% of families with suspected rare monogenic diseases remain unsolved after
whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) …

Less than half of individuals with a suspected Mendelian condition receive a precise
molecular diagnosis after comprehensive clinical genetic testing. Improvements in data …

In the modern era, cardiologists managing patients and families with cardiomyopathies need
to be familiar with every stage of the diagnostic pathway from clinical phenoty** to the …

Single locus (Mendelian) diseases are a leading cause of childhood hospitalization,
intensive care unit (ICU) admission, mortality, and healthcare cost. Rapid genome …

Abstract Since the Human Genome Project, the consensus position in genomics has been
that data should be shared widely to achieve the greatest societal benefit. This position …

Background Obtaining a precise molecular diagnosis through clinical genetic testing
provides information about disease prognosis or progression, allows accurate counseling …