Evidence map›Paper›PMID 36288632›Full record

ArticleClinics (Sao Paulo, Brazil)2022

Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.

Amanda M Narcizo, Lais C Cardoso, Anna F F Benedetti, Alexander A L Jorge, Mariana F A Funari, Barbara L Braga, Monica M Franca, Luciana R Montenegro, Antonio M Lerario, Mirian Y Nishi and 1 more

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Article in Clinics (Sao Paulo, Brazil), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Amanda M NarcizoLaboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil. Electronic address: amnarcizo@usp.br.
Lais C CardosoLaboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Anna F F BenedettiLaboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Alexander A L JorgeLaboratório de Hormonios e Genetica Molecular/LIM42, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil; Unidade de Endocrinologia Genetica/LIM25, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Mariana F A FunariLaboratório de Hormonios e Genetica Molecular/LIM42, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Barbara L BragaLaboratório de Hormonios e Genetica Molecular/LIM42, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Monica M FrancaLaboratório de Hormonios e Genetica Molecular/LIM42, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Luciana R MontenegroLaboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil; Laboratório de Hormonios e Genetica Molecular/LIM42, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Antonio M LerarioDepartment of Internal Medicine, Division of Endocrinology, Metabolism and Diabetes, University of Michigan, Ann Arbor, MI, USA.
Mirian Y NishiLaboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil; Laboratório de Hormonios e Genetica Molecular/LIM42, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Berenice B MendoncaLaboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil; Laboratório de Hormonios e Genetica Molecular/LIM42, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo analyze the efficiency of a multigenic targeted massively parallel sequencing panel related to endocrine disorders for molecular diagnosis of patients assisted in a tertiary hospital involved in the training of medical faculty. MATERIAL AND

methodsRetrospective analysis of the clinical diagnosis and genotype obtained from 272 patients in the Endocrine unit of a tertiary hospital was performed using a custom panel designed with 653 genes, most of them already associated with the phenotype (OMIM) and some candidate genes that englobes developmental, metabolic and adrenal diseases. The enriched DNA libraries were sequenced in NextSeq 500. Variants found were then classified according to ACMG/AMP criteria, with Varsome and InterVar.

resultsThree runs were performed; the mean coverage depth of the targeted regions in panel sequencing data was 249×, with at least 96.3% of the sequenced bases being covered more than 20-fold. The authors identified 66 LP/P variants (24%) and 27 VUS (10%). Considering the solved cases, 49 have developmental diseases, 12 have metabolic and 5 have adrenal diseases.

conclusionThe application of a multigenic panel aids the training of medical faculty in an academic hospital by showing the picture of the molecular pathways behind each disorder. This may be particularly helpful in developmental disease cases. A precise genetic etiology provides an improvement in understanding the disease, guides decisions about prevention or treatment, and allows genetic counseling.

Indexed as

High-Throughput Nucleotide SequencingMutationPhenotypeRetrospective StudiesTertiary Care CentersEndocrine disorders diagnosticMultigenic custom panel

Identifiers

PMID36288632
PMCPMC9593712

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