Tag: OMIM

Penetrance of Mendelian Disease Variants Ranges in Heterozygous Carriers

NEW YORK – Using genetic data from the UK Biobank, a team from Brigham and Women’s Hospital, the Broad Institute, Harvard Medical School, and the Massachusetts Institute of Technology has documented various levels of recessiveness for variants previously implicated in Mendelian conditions. “With increasing exome sequencing of population biobank cohorts,…

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Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes

Pyridox(am)ine 5′-phosphate oxidase (PNPO; Enzyme Commission Number 1.4.3.5) is a rate-limiting enzyme in the synthesis of vitamin B6 (VB6) (1). Mutations in PNPO can cause neonatal epileptic encephalopathy, a devastating disease that usually leads to death if untreated (2). Recently, PNPO mutations have also been reported in patients with infantile…

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dbSNP – Wikipedia @ WordDisk

The Single Nucleotide Polymorphism Database[1] (dbSNP) is a free public archive for genetic variation within and across different species developed and hosted by the National Center for Biotechnology Information (NCBI) in collaboration with the National Human Genome Research Institute (NHGRI). Although the name of the database implies a collection of…

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Summer Intern -Bioinformatics – Roche – Pleasanton

·  Job facts Summer Intern – (Bioinformatics) The Summer @ Roche Intern Program has been developed to provide students with a fun yet rewarding summer through hands-on experience and numerous opportunities to network with other interns as well as employees in the organization. Additionally, we help our students meet their…

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Bioinformatics Scientist – Bethesda | Mendeley Careers

We are currently searching for a Bioinformatics Scientist to provide support services to satisfy the overall operational objectives of the National Human Genome Research Institute (NHGRI), The primary objective is to provide services and deliverables through performance of support services. This opportunity is full-time, and it is on site in…

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benevolentai Senior Bioinformatics Data Scientist in Douglaston, NY | 688499427

With over 35 nationalities and a range of backgrounds represented in our Benevolent team, we aim to build an inclusive environment where our people can bring their authentic selves to work, be respected for who they are and the exceptional work they do. We welcome and actively encourage applications from…

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Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease

Significance Cilia are tubulin-based cellular appendages, and their dysfunction has been linked to a variety of genetic diseases. Ciliary chondrodysplasia is one such condition that can co-occur with cystic kidney disease and other organ manifestations. We modeled skeletal ciliopathies by mutating two established disease genes in Xenopus tropicalis frogs. Bioinformatic…

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Transcription Factor Functions

Transcription Factor Functions 1 I have been wondering if there is a database that contains information about whether a transcription factor has a repressive or an activating or a context-dependent function. factor database transcription • 71 views If you performed a whole-genome FIMO scan, selecting those hits that match your…

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