Xiaowu Gai

mito-overview integrates mitochondrial coverage, allele fractions, annotations, and read co-occurrence to identify and analyze candidate variants in mitochondrial genomic reports.

This paper introduces a semantic embedding framework to predict genetic variant pathogenicity using natural language descriptions and pre-trained models, achieving high accuracy across multiple genes.

The paper identifies a novel SARS-CoV-2 spike variant, S:N679S, in a neonatal patient and finds it present in other samples from the US mid-Atlantic region.

The paper identifies a rapid increase in the SARS-CoV-2 M gene mutation I82T and its association with a new sub-B.1 clade, suggesting potential biological fitness and implications for surveillance.

The paper analyzes 50,500 SARS-CoV-2 isolates to map global variant and haplotype landscapes, identifying country-private variants and haplotypes that increased with travel restrictions.

AnthOligo automates the design of oligonucleotides for genomic capture technologies by optimizing parameters like Tm and ΔG while minimizing primer dimers.

The paper introduces CARD, a database for SARS-CoV-2 genomic surveillance, enabling rapid variant identification and phylogenetic analysis of viral isolates.

A 343-primer-pair multiplex PCR assay enables electrophoretic detection and full-genome sequencing of SARS-CoV-2 across 8 to half a million viral copies from 13 clinical specimens.