Featured Publications

Featured Publication

Trans-ancestry mutational landscape of hepatocellular carcinoma genomes


Genetic changes associated with hepatocellular carcinoma vary across geographical regions and ancestry groups. Exome sequencing of 503 liver cancer genomes and matched normal tissue from different populations revealed 30 candidate driver genes and 11 implicated pathways. Trans-ancestry comparisons identified unique, ancestry-associated mutational signatures contributing to cancer progression.

Read more at PubMed »

 
 
Trans-ancestry mutational landscape of hepatocellular carcinoma genomes
 
 
Defining the role of common variation in the genomic and biological architecture of adult human height
 
 
Honeysuckle-encoded atypical microRNA2911 directly targets influenza A viruses
 
 
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
 
 

A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death

Researchers used whole-genome sequencing to study 2 families with a high prevalence of late-onset Alzheimer’s disease. Linkage analysis revealed a rare autosomal dominant mutation in the netrin receptor gene UNC5C that segregated with the disease in both families. Functional tests indicate that the T835M mutation in UNC5C might contribute to disease risk by increasing susceptibility to cell death in neurons.

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Wetzel-Smith MK, Hunkapiller J, Bhangale TR, et al. A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death - Nature Medicine

Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes

Researchers used HiSeq and MiSeq Systems to analyze human kidney tumors and characterize cancer subtypes. Exome sequencing identified distinct, recurrent mutations that distinguished papillary, chromophobe, and translocation subtypes of non-clear cell renal cell carcinoma. RNA sequencing revealed novel gene fusions and upregulation of the anti-apoptotic factor BIRC7, which might be a candidate target for therapy.

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Durinck S, Stawiski EW, Pavía-Jiménez A, et al. Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes - Nature Genetics

Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

To identify genetic susceptibility loci for diffuse large B cell lymphoma, investigators conducted a meta-analysis of GWAS, supplemented with genotyping of candidate SNPs in cases and controls. They found 5 independent, disease-associated SNPs in 4 loci with genome-wide significance. Results provide new evidence for genetic susceptibility and highlight pathways involved in pathogenesis.

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Cerhan JR, Berndt SI, Vijai J, et al. Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma - Nature Genetics

Immunochip SNP array identifies novel genetic variants conferring susceptibility to candidaemia

Scientists used the Immunochip array to investigate potential genetic factors that confer susceptibility to candidaemia, a common bloodstream infection. They observed significant associations between candidaemia and SNPs at the CD58, LCE4A-C1orf68, and TAGAP loci that were confirmed using transcriptomics, pathway analysis, and immunological studies. These novel risk factors might inform the development of therapeutic strategies.

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Kumar V, Cheng SC, Johnson MD, et al. Immunochip SNP array identifies novel genetic variants conferring susceptibility to candidaemia - Nature Communications

A nonsense mutation in PRNP associated with clinical Alzheimer's disease

Exome sequencing of an individual with Alzheimer’s disease uncovered a nonsense mutation in the prion protein gene PRNP and confirmed the absence of pathogenic mutations in the traditional markers APP, PSEN1, and PSEN2. This study describes PRNP as a new candidate variant associated with Alzheimer’s disease.

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Guerreiro R, Brás J, Wojtas A, Rademakers R, Hardy J, Graff-Radford N. A nonsense mutation in PRNP associated with clinical Alzheimer's disease - Neurobiology of Aging

Trans-ancestry mutational landscape of hepatocellular carcinoma genomes

Genetic changes associated with hepatocellular carcinoma vary across geographical regions and ancestry groups. Exome sequencing of 503 liver cancer genomes and matched normal tissue from different populations revealed 30 candidate driver genes and 11 implicated pathways. Trans-ancestry comparisons identified unique, ancestry-associated mutational signatures contributing to cancer progression.

Read more at PubMed »

Totoki Y, Tatsuno K, Covington KR, et al. Trans-ancestry mutational landscape of hepatocellular carcinoma genomes - Nature Genetics

Defining the role of common variation in the genomic and biological architecture of adult human height

A large GWAS identified 697 variants contributing to heritability in adult height, including novel associations with skeletal growth. All common variants accounted for 60% of heritability. Contrary to current hypotheses, this study showed that increasing the size of GWAS can identify more associated variants for common traits.

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Wood AR, Esko T, Yang J, et al. Defining the role of common variation in the genomic and biological architecture of adult human height - Nature Genetics

Honeysuckle-encoded atypical microRNA2911 directly targets influenza A viruses

Traditional Chinese medicine has treated influenza with honeysuckle for centuries, but the active compounds were unknown. RNA sequencing of a mouse model treated with honeysuckle showed a significant elevation of the honeysuckle miRNA MIR2911 in blood and lung tissue, which correlated with increased survival after influenza A infection. Results suggest that MIR2911 acts as a natural viral suppressor against influenza A.

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Zhou Z, Li X, Liu J, et al. Honeysuckle-encoded atypical microRNA2911 directly targets influenza A viruses - Cell Research

Unbiased classification of sensory neuron types by large-scale single-cell RNA sequencing

The primary nervous system contains multiple cell types specialized for specific sensory reception. Using single-cell RNA sequencing of mouse dorsal root ganglia, researchers classified cells into 11 types and identified molecular markers for the functionally distinct classes. This classification catalog provides an important resource for studies of neuronal cell differentiation.

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Usoskin D, Furlan A, Islam S, et al. Unbiased classification of sensory neuron types by large-scale single-cell RNA sequencing - Nature Neuroscience

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Researchers used exome sequencing to investigate the complex pattern of inheritance for myocardial infarction. Results indicated that in addition to LDL cholesterol genes, rare coding mutations in the low-density lipoprotein receptor LDLR and apolipoprotein APOA5 genes contribute to increased risk for early-onset myocardial infarction.

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Do R, Stitziel NO, Won H, et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction - Nature