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Article
Open AccessPrevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls
Prior research has established that the prevalence of pathogenic/likely pathogenic (P/LP) variants across all of the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes is approximately 0...
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Article
Open AccessA Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation
Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disease in humans, characterized by abnormal deposition of cholesterol and phospholipids in cornea caused by mutations in the UbiA prenyltransferase d...
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Article
Open AccessThe genome of Diuraphis noxia, a global aphid pest of small grains
The Russian wheat aphid, Diuraphis noxia Kurdjumov, is one of the most important pests of small grains throughout the temperate regions of the world. This phytotoxic aphid causes severe systemic damage symptoms i...
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Article
Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation
Zhiming Cai and colleagues report whole-genome and whole-exome sequencing of 99 paired tumor-normal samples of transitional cell carcinoma of the bladder. They find that 32% of tumors harbor alterations in gen...
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Article
Open AccessSOAPfuse: an algorithm for identifying fusion transcripts from paired-end RNA-Seq data
We have developed a new method, SOAPfuse, to identify fusion transcripts from paired-end RNA-Seq data. SOAPfuse applies an improved partial exhaustion algorithm to construct a library of fusion junction sequen...
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Article
Open AccessA locally funded Puerto Rican parrot (Amazona vittata) genome sequencing project increases avian data and advances young researcher education
Amazona vittata is a critically endangered Puerto Rican endemic bird, the only surviving native parrot species in the United States territory, and the first parrot in the large Neotropical genus Amazona, to be s...
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Article
Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder
Zhiming Cai and colleagues report the exome sequencing of tumor and matched normal tissue from nine transitional cell carcinomas (TCCs) of the bladder, with further screening in 88 additional subjects. The aut...
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Article
The Ter mutation in the dead end gene causes germ cell loss and testicular germ cell tumours
The phenotype of Ter testicular germ cell tumour susceptibility gene was first described more than 30 years ago, but it has taken until now for the identity of the gene to be discovered. Ter is a mutation inducin...
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Article
Alternative transcript initiation and novel post-transcriptional processing of a leucine-rich repeat receptor-like protein kinase gene that responds to short-day photoperiodic floral induction in morning glory (Ipomoea nil)
A gene (inrpk1) encoding a putative receptor-like protein kinase was isolated from the Japanese morning glory, Ipomoea (Pharbitis) nil Roth. cv. Violet. The receptor-like portion of the largest derived polypeptid...
