Tag: OMIM

Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations

CNV analysis After the application of quality filter step I (gender mismatch), two patients were excluded. Through step II (call rate <98%), 40 patients were discarded and after step III (exceeded double of standard deviation), 12 more patients were excluded. In the remaining 396 individuals with ARM, a total of…

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UCSC Genome Browser | Encyclopedia MDPI

1. History Initially built and still managed by Jim Kent, then a graduate student, and David Haussler, professor of Computer Science (now Biomolecular Engineering) at the University of California, Santa Cruz in 2000, the UCSC Genome Browser began as a resource for the distribution of the initial fruits of the…

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NM_005445.4(SMC3):c.181C>T (p.Arg61Trp) AND Cornelia de Lange syndrome 3 – ClinVar

NM_005445.4(SMC3):c.181C>T (p.Arg61Trp) AND Cornelia de Lange syndrome 3 Based on: 1 submission [Details] Record status: current Accession: RCV000760292.1 Allele description [Variation Report for NM_005445.4(SMC3):c.181C>T (p.Arg61Trp)] NM_005445.4(SMC3):c.181C>T (p.Arg61Trp) Gene: SMC3:structural maintenance of chromosomes 3 [Gene – OMIM – HGNC] Variant type: single nucleotide variant Cytogenetic location: 10q25.2 Genomic location: Preferred name:…

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NM_005359.6(SMAD4):c.1630C>A (p.Pro544Thr) AND Hereditary cancer-predisposing syndrome – ClinVar

NM_005359.6(SMAD4):c.1630C>A (p.Pro544Thr) AND Hereditary cancer-predisposing syndrome Based on: 1 submission [Details] Record status: current Accession: RCV001012497.1 Allele description [Variation Report for NM_005359.6(SMAD4):c.1630C>A (p.Pro544Thr)] NM_005359.6(SMAD4):c.1630C>A (p.Pro544Thr) Gene: SMAD4:SMAD family member 4 [Gene – OMIM – HGNC] Variant type: single nucleotide variant Cytogenetic location: 18q21.2 Genomic location: Preferred name: NM_005359.6(SMAD4):c.1630C>A (p.Pro544Thr) HGVS:…

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Job – Principal Biostistician/Bioinformatics job at Kenya Medical Research

Vacancy title: Principal Biostistician/Bioinformatics [ Type: FULL TIME , Industry: Research , Category: Research ] Jobs at: Kenya Medical Research – KEMRI Deadline of this Job: 06 October 2022   Duty Station: Within Kenya , Kisumu , East Africa SummaryDate Posted: Tuesday, September 20, 2022 , Base Salary: Not Disclosed…

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All transcript variants in gene MAD1L1 – BIPMed SNP Array

Legend Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column’s header and hold it still. Below, a more detailed description is shown per column. Effect: The variant’s effect on the protein’s function, in the format ‘R/C’ where…

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Human hg38 chr7:73,678,750-73,740,129 UCSC Genome Browser v435

Use drop-down controls below and press refresh to alter tracks displayed.Tracks with lots of items will automatically be displayed in more compact modes.    Custom Tracks H3K27ac Meta NeuN SCZhidedensesquishpackfull H3K27ac NeuN SCZ del_CRDhidedensesquishpackfull H3K27ac NeuN SCZ del_CRD_del_peakshidedensesquishpackfull H3K27ac Tissuehidedensesquishpackfull H3K27ac Tissue BDhidedensesquishpackfull H3K27ac Tissue BD del_CRDhidedensesquishpackfull H3K27ac Tissue BD…

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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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