日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

GA4GH表型包驱动的孟德尔遗传病基因型-表型相关性表征

Rekerle, Lauren; Danis, Daniel; Rehburg, Filip; Graefe, Adam S L; Bily, Viktor; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Chimirri, Leonardo; Chong, Jessica X; Connelly, Evan; de Vries, Bert B A; Dingemans, Alexander J M; Duyzend, Michael H; Freiberger, Tomas; Gehle, Petra; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Ladewig, Markus S; Love, Michael I; Marcello, Allison J; Mordhorst, Alexander; Munoz-Torres, Monica C; Reese, Justin; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Vladyka, Ondrej; Zocche, David; Thun, Sylvia; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N

An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets

基于本体的罕见病通用数据模型,协调国际注册库、FHIR 和 Phenopackets。

Graefe, Adam S L; Hübner, Miriam R; Rehburg, Filip; Sander, Steffen; Klopfenstein, Sophie A I; Alkarkoukly, Samer; Grönke, Ana; Weyersberg, Annic; Danis, Daniel; Zschüntzsch, Jana; Nyoungui, Elisabeth F; Wiegand, Susanna; Kühnen, Peter; Robinson, Peter N; Beyan, Oya; Thun, Sylvia

RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets

RareLink:基于 REDCap 的可扩展罕见病互操作性框架,可将国际注册库与 FHIR 和 Phenopackets 连接起来。

Graefe, Adam S L; Rehburg, Filip; Alkarkoukly, Samer; Danis, Daniel; Grönke, Ana; Hübner, Miriam R; Bartschke, Alexander; Debertshäuser, Thomas; Klopfenstein, Sophie A I; Saß, Julian; Fleck, Julia; Rehberg, Mirko; Zschüntzsch, Jana; Nyoungui, Elisabeth F; Kalashnikova, Tatiana; Murguía-Favela, Luis; Derfalvi, Beata; Wright, Nicola A M; Moosa, Shahida; Ogishima, Soichi; Semler, Oliver; Wiegand, Susanna; Kühnen, Peter; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N; Thun, Sylvia; Beyan, Oya

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

GA4GH表型包语料库:用于基因组诊断和发现的病例级表型分析

Danis, Daniel; Bamshad, Michael J; Bridges, Yasemin; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Carmody, Leigh C; Chimirri, Leonardo; Chong, Jessica X; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J; Graefe, Adam S L; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S; Marcello, Allison J; Mattina, Teresa; Mungall, Christopher J; Munoz-Torres, Monica C; Reese, Justin T; Rehburg, Filip; Reis, Bárbara C S; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Sundaramurthi, Jagadish Chandrabose; Thun, Sylvia; Wissink, Kyran; Wagstaff, John F; Zocche, David; Haendel, Melissa A; Robinson, Peter N

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders

GA4GH表型包驱动的孟德尔遗传病基因型-表型相关性表征

Rekerle, Lauren; Danis, Daniel; Rehburg, Filip; Graefe, Adam Sl; Bily, Viktor; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Chimirri, Leonardo; Chong, Jessica X; Connelly, Evan; de Vries, Bert Ba; Dingemans, Alexander Jm; Duyzend, Michael H; Freiberger, Tomas; Gehle, Petra; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Ladewig, Markus S; Love, Michael I; Marcello, Allison J; Mordhorst, Alexander; Munoz-Torres, Monica C; Reese, Justin; Schütz, Catharina; Smedley, Damian; Strauss, Timmy; Vladyka, Ondrej; Zocche, David; Thun, Sylvia; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N

Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability

利用 RareLink 将国际注册库与 FHIR 和 Phenopackets 连接起来:一个基于 REDCap 的可扩展罕见病数据互操作性框架

Graefe, Adam S L; Rehburg, Filip; Alkarkoukly, Samer; Danis, Daniel; Grönke, Ana; Hübner, Miriam R; Bartschke, Alexander; Debertshäuser, Thomas; Klopfenstein, Sophie A I; Saß, Julian; Fleck, Julia; Rehberg, Mirko; Zschüntzsch, Jana; Nyoungui, Elisabeth F; Kalashnikova, Tatiana; Murguía-Favela, Luis; Derfalvi, Beata; Wright, Nicola A M; Moosa, Shahida; Ogishima, Soichi; Semler, Oliver; Wiegand, Susanna; Kühnen, Peter; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N; Thun, Sylvia; Beyan, Oya

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

GA4GH表型包语料库:用于基因组诊断和发现的病例级表型分析

Danis, Daniel; Bamshad, Michael J; Bridges, Yasemin; Cacheiro, Pilar; Carmody, Leigh C; Chong, Jessica X; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J; Graefe, Adam S L; Groza, Tudor; Jacobsen, Julius O B; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S; Marcello, Anthony J; Mattina, Teresa; Mungall, Christopher J; Munoz-Torres, Monica C; Reese, Justin T; Rehburg, Filip; Reis, Bárbara C S; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Sundaramurthi, Jagadish Chandrabose; Thun, Sylvia; Wissink, Kyran; Wagstaff, John F; Zocche, David; Haendel, Melissa A; Robinson, Peter N