Featured Publications

Featured Publication

The African Genome Variation Project shapes medical genetics in Africa


Researchers used genotyping and whole-genome sequencing to characterize genetic diversity across Sub-Saharan Africa. The study revealed significant haplotype diversity and uncovered novel associations with malaria susceptibility and hypertension. These findings provide a resource for future studies of African populations, with implications for understanding human migrations and disease risk.

Read more at PubMed »

 
 
The African Genome Variation Project shapes medical genetics in Africa
 
 
Large-scale whole-genome sequencing of the Icelandic population
 
 
GWAS of marginal zone lymphoma shows association to the HLA region
 
 
Evolutionary history and global spread of Mycobacterium tuberculosis
 
 

Comparison of gene expression patterns across 12 tumor types identifies a cancer supercluster characterized by TP53 mutations and cell cycle defects

Transcriptional profile–based subtypes are often used to identify cancers originating from the same tissue. Using RNA sequencing data from The Cancer Genome Atlas, researchers characterized 8 transcriptional clusters across 12 tumor types that share commonly activated disease pathways and similarities in gene expression. These results highlight RNA profiles driving cancer subtype differentiation.

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Martínez E, Yoshihara K, Kim H, Mills GM, Treviño V, Verhaak RG Comparison of gene expression patterns across 12 tumor types identifies a cancer supercluster characterized by TP53 mutations and cell cycle defects. - Oncogene

Blocking PGE2-induced tumour repopulation abrogates bladder cancer chemoresistance

RNA sequencing with the HiSeq 2500 System revealed that bladder cancer stem cells express unexpected proliferation between chemotherapy cycles by releasing prostaglandin E2 (PGE2). These findings highlight a new mechanism that models the progressive development of therapeutic resistance, which might influence the development of adjunctive therapy.

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Kurtova AV, Xiao J, Mo Q, et al.Blocking PGE2-induced tumour repopulation abrogates bladder cancer chemoresistance - Nature Genetics

Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours

Researchers used the HiSeq 2500 System to characterize the mutational landscape of testicular germ cell tumors. Exome sequencing of 42 tumor samples revealed recurrent mutations in the tumor suppressor gene CDC27 and the resistance-associated gene XRCC2. These findings provide insight into disease development and progression.

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Litchfield K, Summersgill B, Yost S, et al. Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours. - Nature Communications

The African Genome Variation Project shapes medical genetics in Africa

Researchers in the African Genome Variation Project used array-based genotyping and whole-genome sequencing to characterize genetic diversity across Sub-Saharan Africa. The study revealed significant haplotype diversity in Africa and uncovered novel differentiation in genes associated with malaria susceptibility and hypertension. These findings provide a resource for future studies of African populations, with implications for understanding human migrations and disease risk.

Read more at PubMed »

Gurdasani D, Carstensen T, Tekola-Ayele F, et al. The African Genome Variation Project shapes medical genetics in Africa. - Nature

Large-scale whole-genome sequencing of the Icelandic population

Investigators sequenced the genomes of 2636 individuals to characterize the genetic structure of the Icelandic population. By combining the sequencing results with thousands of imputed genotypes, they identified rare alleles and variants associated with various diseases and traits. This study provides a foundation for future population genomics studies.

Read more at PubMed »

Gurdasani D, Carstensen T, Tekola-Ayele F, et al. Large-scale whole-genome sequencing of the Icelandic population - Nature Genetics

A genome-wide association study of marginal zone lymphoma shows association to the HLA region

A large-scale genome-wide association study of marginal zone lymphoma identified 2 independent loci near the BTNL2 gene in the human leukocyte antigen (HLA) region that are significantly associated with risk. This study presents the first evidence that genetic variation in the major histocompatibility complex influences susceptibility to marginal zone lymphoma.

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Vijai J, Wang Z, Berndt SI, et al. A genome-wide association study of marginal zone lymphoma shows association to the HLA region - Nature Communications

Evolutionary history and global spread of the Mycobacterium tuberculosis Beijing lineage

Using the MiSeq System, researchers sequenced M. tuberculosis isolates linked to drug resistance from 99 countries. Results indicated that the lineage originated in the Far East and radiated worldwide in waves that coincided with global events. The study also identified virulence-associated mutations under positive selection, which might inform future public health efforts.

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Merker M, Blin C, Mona S, et al. Evolutionary history and global spread of the Mycobacterium tuberculosis Beijing lineage - Nature Genetics