Search Publications » Featured Publications

Featured Publication

Actionable diagnosis of neuroleptospirosis by next-generation sequencing

Many cases of encephalitis remain undiagnosed despite extensive clinical testing. Investigators sequenced DNA isolated from the cerebrospinal fluid of a patient with severe encephalitis. Sequencing identified the presence of a Leptospira strain that was later confirmed as the cause of the illness.
Read more at PubMed »
Featured Publication

Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos

An abnormal number of chromosomes, or chromosomal aneuploidy, is a major cause of in vitro fertilization (IVF) failure. Preimplantation genetic screening (PGS) of embryos increases the likelihood of successful implantation and pregnancy. Using HiSeq and MiSeq Systems, researchers demonstrated that next-generation sequencing–based PGS delivers results that are consistent with conventional array-based methods, while offering potential advantages.
Read more at PubMed »
Featured Publication

XBP1 promotes triple-negative breast cancer by controlling the HIF1α pathway

Triple-negative breast cancer (TNBC) is an aggressive form of breast cancer in which tumor cells do not express estrogen receptor, progesterone receptor, and HER2 genes. Using ChIP-Seq, investigators discovered that activation of the XBP1 protein regulates the HIF1α pathway, driving tumorigenesis and TNBC progression. The finding may inform treatment strategies for this cancer subtype.
Read more at PubMed »
Featured Publication

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci

To investigate genetic associations with blood pressure, researchers performed large-scale genotyping and meta-analysis of individuals of European descent. Analysis identified 11 previously unknown loci associated with blood pressure regulation, implicating several genes potentially involved in hypertension.
Read more at PubMed »
Actionable diagnosis of neuroleptospirosis by next-generation sequencing
NGS-based protocol for 24-chromosome aneuploidy screening of embryos
XBP1 promotes triple-negative breast cancer by controlling the HIF1α pathway
Gene-centric meta-analysis identifies multiple blood-pressure-related loci

Actionable diagnosis of neuroleptospirosis by next-generation sequencing

Many cases of encephalitis remain undiagnosed despite extensive clinical testing. Investigators sequenced DNA isolated from the cerebrospinal fluid of a patient with severe encephalitis. Sequencing identified the presence of a Leptospira strain that was later confirmed as the cause of the illness.

Read more at PubMed »

Wilson MR, Naccache SN, Samayoa E, Biagtan M, Bashir H, et al. Actionable diagnosis of neuroleptospirosis by next-generation sequencing  New England Journal of Medicine

Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer

Researchers used exome and transcriptome sequencing as well as microarrays to characterize 51 gastric tumors and 32 cell lines. Meta-analysis identified gene and splice site mutations in addition to mutation-independent protein isoforms. Results revealed that over-expression of the ZAK kinase TV1 isoform activates multiple cancer-related pathways and is associated with tumorigenesis.

Read more at PubMed »

Liu J, McCleland M, Stawiski EW, Gnad F, Mayba O, et al. Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer  Nature Communications

Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos

An abnormal number of chromosomes, or chromosomal aneuploidy, is a major cause of in vitro fertilization (IVF) failure. Preimplantation genetic screening (PGS) of embryos increases the likelihood of successful implantation and pregnancy. Using HiSeq and MiSeq Systems, researchers demonstrated that next-generation sequencing–based PGS delivers results that are consistent with conventional array-based methods, while offering potential advantages.

Read more at PubMed »

Fiorentino F, Biricik A, Bono S, Spizzichino L, Cotroneo E, et al. Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos  Fertility and Sterility

Integrated next-generation sequencing and avatar mouse models for personalized cancer treatment

To investigate the potential of using genomic data to personalize cancer treatment, researchers generated patient-derived xenografts in mice to test proposed treatment strategies in vivo. Whole-exome sequencing of patients with advanced solid tumors identified putative tumor-specific alterations. Treatments targeting these mutations were tested in the mouse models, reflecting clinical response and informing patient therapy.

Read more at PubMed »

Garralda E, Paz K, López-Casas PP, Jones S, Katz A, et al. Integrated next-generation sequencing and avatar mouse models for personalized cancer treatment  Clinical Cancer Research

XBP1 promotes triple-negative breast cancer by controlling the HIF1α pathway

Triple-negative breast cancer (TNBC) is an aggressive form of breast cancer in which tumor cells do not express estrogen receptor, progesterone receptor, and HER2 genes. Using ChIP-Seq, investigators discovered that activation of the XBP1 protein regulates the HIF1α pathway, driving tumorigenesis and TNBC progression. The finding may inform treatment strategies for this cancer subtype.

Read more at PubMed »

Chen X, Iliopoulos D, Zhang Q, Tang Q, Greenblatt MB, et al. XBP1 promotes triple-negative breast cancer by controlling the HIF1α pathway  Nature

Identification of genomic alterations in oesophageal squamous cell cancer

Current methods for early diagnosis and treatment of esophageal squamous cell carcinoma (ESCC) are limited. To understand the genomic events that contribute to ESCC pathogenesis, investigators performed whole-genome and whole-exome sequencing of tumor and matched normal samples. Results uncovered gene mutations, novel biomarkers, and tumorigenic pathways that may influence therapeutic strategies.

Read more at PubMed »

Song Y, Li L, Ou Y, Gao Z, Li E, et al. Identification of genomic alterations in oesophageal squamous cell cancer  Nature

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

Researchers used HiSeq Systems to sequence the exomes of families affected by small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). Sequencing identified at least one deleterious germline or somatic SMARCA4 mutation in a majority of the cases. Results indicated that SMARCA4 alterations contribute significantly to SCCOHT.

Read more at PubMed »

Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, et al. Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type  Nature Genetics

Recurrent PTPRB and PLCG1 mutations in angiosarcoma

Researchers used whole-genome, whole-exome, and targeted sequencing with HiSeq Systems to study the genetic changes that contribute to angiosarcoma. Sequencing identified recurrent mutations in the PTPRB and PLCG1 signaling genes that regulate angiogenesis. These findings support the development of targeted therapies for angiosarcoma.

Read more at PubMed »

Behjati S, Tarpey PS, Sheldon H, Martincorena I, Van Loo P, et al. Recurrent PTPRB and PLCG1 mutations in angiosarcoma  Nature Genetics

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci

To investigate genetic associations with blood pressure, researchers performed large-scale genotyping and meta-analysis of individuals of European descent. Analysis identified 11 previously unknown loci associated with blood pressure regulation, implicating several genes potentially involved in hypertension.

Read more at PubMed »

Tragante V, Barnes MR, Ganesh SK, Lanktree MB, Guo W, et al. Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci  American Journal of Human Genetics