output
20192025
most citedMapping the Human Body at Cellular Resolution -- The NIH Common Fund Human BioMolecular Atlas Program

690 citations

researchers with a paper here

Counting papers with at most 25 authors, so collaboration author lists do not stand in for the people here.

collaborating institutions
Showing q-bio.GNShow all

2 papers · 1 filter

q-bio.GN2025

Combining multiplexed functional data to improve variant classification

Atlas of Variant Effects Alliance, :, Jeffrey D. Calhoun +10

With the surge in the number of variants of uncertain significance (VUS) reported in ClinVar in recent years, there is an imperative to resolve VUS at scale. Multiplexed assays of…

q-bio.GN2023★ 130 cited

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha +21

Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise…