Adv Genet (Hoboken) March 2023 PMID 36910590

GA4GH Phenopackets: A Practical Introduction.

Markus S Ladewig, Julius O B Jacobsen, Alex H Wagner, Daniel Danis, Baha El Kassaby, Michael Gargano, Tudor Groza, Michael Baudis, Robin Steinhaus, Dominik Seelow, Nikolaos E Bechrakis, Christopher J Mungall, Paul N Schofield, Olivier Elemento, Lindsay Smith

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Peak: 12 in Aug 2022

across 2 sources since Aug 2022

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AI synopsis

What people are saying

Several discussions praise the paper and the phenopackets standard, using words like 'practical introduction' and 'supporting tools,' which reflect positive perceptions of its usefulness. The tone emphasizes its significance in data sharing and research, suggesting that the community sees it as a step toward more open and impactful genomic medicine.

AgreementModerate agreement

Most discussions support the publication, highlighting its role in advancing data sharing and research.

InterestHigh interest

Posts show strong interest, describing phenopackets as a new standard and emphasizing its importance for genomics and clinical data.

EngagementModerate engagement

Many comments reference the utility of phenopackets and related tools, indicating ongoing engagement with the topic.

ImpactModerate impact

The consensus suggests that phenopackets are viewed as having meaningful potential to influence future research and clinical practices.

Abstract in brief

The GA4GH Phenopacket is a new standard developed by the Global Alliance for Genomics and Health to share detailed information about a person's disease traits, genetic data, diagnoses, and treatments.
It uses a structured schema to represent comprehensive clinical data, illustrated through an example of a patient with retinoblastoma, including demographic info, diagnosis, phenotypic features, tumor details, therapies, and genetic analysis.
This standard aims to facilitate data sharing and computational research to improve diagnosis and understanding of various diseases like cancer and rare conditions by integrating phenotypic and genetic information.]

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All mentions

Introduction to GA4GH Phenopackets for Clinical Data Sharing

The GA4GH Phenopacket is a new standard developed by the Global Alliance for Genomics and Health to share detailed information about a person's disease traits, genetic data, diagnoses, and treatments. It uses a…

Social RTCL TV · Jun 29, 2023 11 views

GA4GH

@GA4GH · X

RT @PhenoTips: Today's #CitationSpotlight is the 2022 paper by Ladewig et al., "@GA4GH @phenopack: A Practical Introduction". PhenoTips…

Apr 20, 2023 · 1 share · 9,918 followers View post →

PhenoTips

@PhenoTips · X

Apr 20, 2023 · 2 likes · 1 share · 1,039 followers View post →

The German Human Genome-Phenome Archive

@GHGA_DE · X

A good guide to start learning about Phenopackets is this paper: https://t.co/E1XA7kLiK8

Apr 19, 2023 · 949 followers View post →

Data Management Bot

@DataOz · X

RT @alhufton: Phenopackets: a new standard, with supporting tools, for sharing disease & phenotype info as #FAIRdata https://t.co/IJCmGmq68…

Sep 5, 2022 · 1 share · 204 followers View post →

Andrew L. Hufton

@alhufton · X

Phenopackets: a new standard, with supporting tools, for sharing disease & phenotype info as #FAIRdata https://t.co/IJCmGmq68s https://t.co/bdEZjNSmgS

Sep 5, 2022 · 1 like · 1 share · 368 followers View post →

Susan Gregurick

@SGregurick · X