The Role of PRF1 Gene in Immune-Mediated Disorders, Hemophagocytic Lymphohistiocytosis, and Malignancies

This blog post presents evidence collected from the Nucleotide Germline Cancer Evidence Base, highlighting the association between PRF1 gene mutations and various immune-mediated disorders and malignancies.

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Exploring the Role of IDH1 Somatic Mutation in Tumorigenesis: A Review of Case Reports and Case Series Data from Nucleati Germline Cancer Evidence Base

Isocitrate dehydrogenase 1 (IDH1) is an enzyme that plays a crucial role in cellular metabolism by catalyzing the conversion of isocitrate to alpha-ketoglutarate (α-KG) in the citric acid cycle.

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Decoding RUNX1 Mutations: Exploring the Spectrum of Clinical Outcomes in Blood Disorders

Germline mutations in the RUNX1 gene are associated with a rare autosomal dominant disorder known as Familial Platelet Disorder with Predisposition to Acute Myeloid Leukemia (FPD/AML).

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Advantages of long-read sequencing for mRNA profiling of biological systems

mRNA sequencing (mRNA-Seq) evaluates the transcriptome of disease states and biological processes. mRNA-Seq is a precise method for measuring gene expression (Eichler, 2017). Unlike small reads typically produced by next-generation transcriptome sequencing, long reads help detect full-length transcripts, gene fusions, and allele-specific expression.

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Tools to evaluate the quality of third-generation/long-read sequencing data

Third-generation sequencing, also known as long-read sequencing, uses technologies developed by Pacific Biosciences (PacBio) and Oxford Nanopore Technologies to elucidate the sequence of a DNA molecule. Several software tools are available in the public domain to evaluate the quality of sequencing results from third-generation sequencers.

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ARMC5 Mutations and Meningioma

The ARMC5 gene codes for a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. ARM family members are observed near the nucleus and may play a role as a tumor suppressor through protein-protein interactions. 

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SPINK1 Gene Mutation & Pancreatic Cancer

The serine protease inhibitor Kazal type 1 (SPINK1) is a potent anti-protease present in the cytoplasm of pancreatic cells, where its primary role is to prevent the auto-digestion of the gland by inactivating the intra-pancreatic trypsin enzyme.

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CPIC guidelines: Introduction and Role in Practicing Pharmacogenetics in Clinics

One of precision medicine's objectives is to optimize drug therapy. Prescribing optimized drug...

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FAERS: FDA Adverse Event Reporting System

The FDA Adverse Event Reporting System (FAERS) is a public database containing information on adverse events and medication errors. An adverse event is any symptom ...

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Role of rubrics in the Determination of Association, Causation, and Classification in the Medical Field

With advances in technology and human understanding of physiological processes, the number of associations between medically relevant entities, like disease, genes, genomic variations, environmental factors...

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