CHH_vd: database of genes and variants associated with Congenital Hypogonadotropic Hypogonadism

Name: CHH_vd: database of genes and variants associated with Congenital Hypogonadotropic Hypogonadism
License: https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Keywords: hypogonadotropic hypogonadism

Datos de investigación

CHH_vd: database of genes and variants associated with Congenital Hypogonadotropic Hypogonadism

Autores: Brunello, Franco Gino Icon

; Castro, Sebastián; Zaiat, Jonathan Javier Icon

; Sanso, Elsa Gabriela Icon

; Izquierdo, Agustin Icon

; Urrutia, Mariela Icon

; Rey, Rodolfo Alberto Icon

; Marti, Marcelo Adrian Icon

; Grinspon, Romina Icon

; Tellechea, Mariana Lorena Icon

Publicador: Consejo Nacional de Investigaciones Científicas y Técnicas

Fecha de depósito: 01/09/2025

Fecha de creado: 08/01/2025

Clasificación temática:

Genética Humana

Resumen

We systematically collected variants reported in the scientific literature as causal for Congenital Hypogonadotropic Hypogonadism (CHH [MIM 146110]) and created CHH_vd, a well-annotated, curated database of variants. The identified sequence variants were critically evaluated using the American College of Medical Genetics and Genomics (ACMG)/ Association for Molecular Pathology (AMP) standards and related guidelines. For variant interpretation, we implemented a novel custom-built computational pipeline for variant annotation and classification.

Métodos

This study was conducted following the principles of the PRISMA guidelines. The review protocol can be accessed upon request.

Información de Series

The bibliographic search for published original articles was conducted on October 5, 2022, using PubMed to examine MEDLINE. After a preliminary search for terms, the following strategy was used: "((hypogonadotropic hypogonadism OR Kallmann) AND (sequencing OR mutation OR variant))", limited to "Humans" and "English".

Información Técnica

Variants were categorized based on their level of pathogenicity with CHH_vip, our custom internal pipeline, which gathers data from CHH_vd and multiple data sources, and is publicly available at https://github.com/fginob1/HNRG_CHH_Rev_Sist.

Palabras clave: hypogonadotropic hypogonadism, human genetics, variant classification, variant annotation, next-generation sequencing, systematic review

Previsualización destacada

Identificador del recurso

URI: http://hdl.handle.net/11336/270039

Colecciones

Datos de Investigación(CEDIE)
Datos de Investigación de CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"

Datos de Investigación(IQUIBICEN)
Datos de Investigación de INSTITUTO DE QUIMICA BIOLOGICA DE LA FACULTAD DE CS. EXACTAS Y NATURALES

Citación

Brunello, Franco Gino; Castro, Sebastián; Zaiat, Jonathan Javier; Sanso, Elsa Gabriela; Izquierdo, Agustin; Urrutia, Mariela; Rey, Rodolfo Alberto; Marti, Marcelo Adrian; Grinspon, Romina; Tellechea, Mariana Lorena; (2025): CHH_vd: database of genes and variants associated with Congenital Hypogonadotropic Hypogonadism. Consejo Nacional de Investigaciones Científicas y Técnicas. (dataset). http://hdl.handle.net/11336/270039

Condiciones de uso

Las buenas prácticas científicas esperan que se otorgue el crédito adecuado mediante una citación. Utilice un formato de citación y aplique estas normas de reutilización.

Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)