It’s fascinating to hear the various ways our products are being used by customers all around the world. This month we’re featuring publications citing VarSeq, SVS and HelixTree which cover studies from Schizophrenia, Multiple Sclerosis and more. We hope you enjoy!
- Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways
This study gives insights into the contribution of rare recessive mutations and inbreeding as risk factors for schizophrenia.
Chiara Magri & Colleagues, The University of Brescia | Published in PLOS One
- Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families
This study looks for rare, potentially damaging variants in family-based data to address the number of causal variants that have remained elusive from other GWAS studies.
Emily Holzinger & Colleagues, NIH | Published in Molecular Genetics & Genomic Medicine
- Cytokine Gene Polymorphisms Associated with Symptom Clusters in Oncology Patients Undergoing Radiation Therapy
Examines the associations between cytokine gene polymorphisms and the severity of three distinct symptom clusters in a sample of patients with breast and prostate cancer (n=157) at the completion of radiation therapy.
Christine Miaskowski & Colleagues, UCSF | Published in the Journal of Pain and Symptom Management
- Genetic Testing and Molecular Biomarkers
Focuses on the contributions of IKZF1, DDC, CDKN2A, CEBPE, and LMO1 Gene Polymorphisms to Acute Lymphoblastic Leukemia in a Yemeni Population
Boshra Al-absi & Colleagues, University of Malaya | Published in
- Application of pharmacogenomics to investigate adverse drug reactions to the disease-modifying treatments for multiple sclerosis: a case–control study protocol for dimethyl fumarate-induced lymphopenia
This study outlines the protocol for a case–control study designed to discover genomic variants associated with DMF-induced lymphopenia.
Kaarina Kowalec & Colleagues, The University of British Columbia
- Associations between genetic and epigenetic variations in cytokine genes and mild persistent breast pain in women following breast cancer surgery
This study uses growth mixture modeling to identify persistent breast pain phenotypes based on pain assessments obtained prior to and monthly for 6 months following breast cancer surgery.
Jon Levine & Colleagues, Northwestern University
- Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes
The study focuses on the use of NGS technologies to sequence panels of genes known and suspected to influence colorectal cancer susceptibility.
Melissa DeRycke & Colleagues, Mayo Clinic