Autor: bygadmin
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Analytical validation of a 37-gene next generation sequencing panel for myeloid malignancies and review of initial findings, including reclassification of Acute Myeloid Leukemias and Myelodysplastic Syndromes using the 2022 WHO/ICC/ELN guidelines
Myeloid neoplasms are clonal disorders that arise via acquisition of genetic mutations leading to excessive proliferation and defective differentiation. Mutational profiling is vital as it has implications on diagnosis, prognosis, and therapeutic decis…
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Gene’s role in attaining and maintaining muscle mass revealed in new study
New research from Northwestern University has uncovered a previously unexplored relationship between a gene critical to immune cells and the establishment and maintenance of skeletal muscle mass and strength in mice. The BCL6 gene has been known to play a key role in the function of immune cells and the body’s inflammatory response. For decades, scientists have…
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Web-based resource provides precise classification of dual genome variants of primary mitochondrial disease
A multi-institutional team of researchers led by teams at Children’s Hospital Los Angeles and Children’s Hospital of Philadelphia (CHOP) has developed a user-friendly, web-based genomic dataset analysis platform to help researchers more easily identify likely disease-causing gene variants in patients with suspected mitochondrial disease. The findings were recently published online by the journal Current Protocols. While…
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New assay identifies clinically relevant gene fusions in pediatric tumors more accurately and efficiently
Identification of specific gene fusions is critical for the successful targeted treatment of pediatric cancer patients. Researchers at Children’s Hospital Los Angeles have developed a novel assay that automatically integrates the data from multiple fusion identification tools (callers) and efficiently and accurately identifies clinically relevant gene fusions in pediatric tumors. Their results are reported in The Journal of…
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Comprehensive genomic analysis identifies a diverse landscape of sideroblastic and non-sideroblastic iron related anemias with novel and pathogenic variants in an iron deficient endemic setting
Inherited iron metabolism defects are possibly missed or underdiagnosed in iron-deficient endemic settings due to a lack of awareness or a methodical screening approach. Hence, we planned a systematic evaluation of anemia cases (2019-2021) based on cli…
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Una técnica pionera revela una nueva capa de regulación genética humana
Una técnica pionera revela una nueva capa de regulación genética humana La revista ‘Molecular Cell’ publica los resultados de un estudio que respaldan la teoría de que el retroceso representa una forma generalizada de regulación genética, que influye en miles de genes humanos, incluidos muchos involucrados en procesos vitales básicos como la división celular y…
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Significance Associated with Phenotype (SAP) Score Aids in Variant Prioritization for Exome Sequencing Analysis
Several in silico annotation-based methods have been developed to prioritize variants in exome sequencing analysis. This study introduces a novel metric, the Significance Associated with Phenotypes (SAP) score, which generates a statistical score by co…
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Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting
Annals of Human Genetics, Volume 88, Issue 2, Page 113-125, March 2024.
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Hallazgo relevante de casi un millón de nuevos exones en el genoma humano
El hallazgo aporta información biológicamente significativa que puede abrir nuevos caminos para explorar el denominado ´genoma oscuro´ que es la parte más extensa y desconocida, todavía, del genoma humano. Actualmente, hay contabilizados alrededor de 20.000 genes codificadores de proteínas en los seres humanos que contienen aproximadamente 180.000 exones internos conocidos, que tan sólo representan el uno…
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Identifican nuevas variantes genéticas específicas de cada sexo en la enfermedad renal
Debido a los cambios demográficos propios del envejecimiento de la población, se prevé que la ERC pueda convertirse en una de las cinco principales causas de muerte en todo el mundo para 2040. Aproximadamente, el diez por ciento de la población mundial padece actualmente enfermedad renal crónica (ERC) que puede derivar en insuficiencia renal, enfermedades cardiovasculares y…