4 Result(s)
within
Yaqiong Wang
Human Genetics
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Article
Open AccessCritical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturi...
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Article
Open AccessPredicting the impact of rare variants on RNA splicing in CAGI6
Variants which disrupt splicing are a frequent cause of rare disease that have been under-ascertained clinically. Accurate and efficient methods to predict a variant’s impact on splicing are needed to interpre...
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Article
Open AccessMetagenome-wide analysis uncovers gut microbial signatures and implicates taxon-specific functions in end-stage renal disease
The gut microbiota plays a crucial role in regulating host metabolism and producing uremic toxins in patients with end-stage renal disease (ESRD). Our objective is to advance toward a holistic understanding of...
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Article
Immunoglobulin VH gene diversity and somatic hypermutation during SIV infection of rhesus macaques
B cell functional defects are associated with delayed neutralizing antibody development in pathogenic lentivirus infections. However, the timeframe for alterations in the antibody repertoire and somatic hyperm...
