2.7k citations
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Showing 2025Show all
3 papers · 1 filter
quant-ph2025
Pangenome-guided sequence assembly via binary optimisation
Josh Cudby, James Bonfield, Chenxi Zhou +2
De novo genome assembly is challenging in highly repetitive regions; however, reference-guided assemblers often suffer from bias. We propose a framework for pangenome-guided sequen…
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.NC2025★ 119 cited
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
L Cif, D Demailly, JP Lin +112
Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor feat…