Congratulations to all of our customers who have recently published! It’s always a pleasure to see the interesting and useful work conducted in part with the aid of our software, and we hope you enjoy reading about it as well.
- Bradley Aouzierat of UCSF and colleagues published Association of IFNL3 and IFNL4 polymorphisms with liver-related mortality in a multiracial cohort of HIV/HCV-coinfected women in the Journal of Viral Hepatitis which studied HIV/HCV coinfected women to investigate why African Americans have a lower liver-related mortality.
- Akio Koizumi of Kyoto University and colleagues published Whole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka in Environmental Health and Preventative Medicine which used whole-exome sequencing to identify the genetic variants associated with CKDu.
- Pathway-focused genetic evaluation of immune and inflammation related genes with chronic fatigue syndrome was published in Human Immunology by Mangalathu Rajeevan of the Centers for Disease Control and colleagues. The study explored the association of functionally important genetic variants in inflammation and immune pathways with CFS.
- In Clinical and Molecular Teratology, Brett Deml and Linda Reis of the Medical College of Wisconsin, along with colleagues, published EFRUD2 Deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model which used whole exome sequencing analysis to identify the pathogenic variant in a patient with multiple features.
- Sambasivarao Damaraju and Ashok Narasimhan of the University of Alberta published Genetics of ramucirumab-associated hypertension in the ROSE/TRIO-012 breast cancer trial in the Journal of Clinical Oncology. In this study, 220 SNPs were genotyped usinig germline DNA, Sequenom iPLEX Gold and Pyrosequencing.
- Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma was published in the European Journal of Human Genetics by Brett Deml, Linda Reis, and Elena Semina of the Medical College of Wisconsin which analyzed 28 probands affected with A/M spectrum by whole-exome sequencing.
- Massimo Delledonne of the University of Verona and colleagues published The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data in PLOS ONE, which shows that an alternative analytical approach from whole genome sequencing data allows a much higher percent of corresponding sites than by standard variant analysis.
- Xifeng Wu of Texas A&M University, along with colleagues, published Genetic variation in the TNF/TRAF2/ASK1/p38 kinase signaling pathway as markers for postoperative pulmonary complications in lung cancer patients in Scientific Reports. This study aimed to discover genetic polymorphisms within the kinase pathway that may contribute to risk of complications with lung resection.
- Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma was published in PLOS ONE by Donna Mackay of Washington University in St. Louis which used trio-based, whole-exome sequencing to identify the genetic defect underlying an autosomal dominant form of adult-onset POAG segregating in an African-American family.
- Matthew Cronin of the University of Alaska Fairbanks along with colleagues published Single nucleotide polymorphism (SNP) variation of wolves (Canis lupus) in Southeast Alaska and comparison with wolves, dogs, and coyotes in North America in the Journal of Heredity which used SNPs to quantify genetic differentiation between the two groups of animals.
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