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Profil bibliographique

Miro Cupak

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

5Publications signalées
420Citations signalées
0Affiliations récentes

Les domaines associés

Genomics and Rare DiseasesEthics in Clinical ResearchCancer Genomics and DiagnosticsAutism Spectrum Disorder ResearchEpigenetics and DNA Methylation

Les publications récentes

Accès ouvert 2026 article OpenAlex

Autism data sharing: Benefits, challenges, and recommendations

Alexandra Lautarescu, Brett Trost, Azadeh Kushki, Bethany Oakley et autres

Data sharing is a key element of scientific research, but it is associated with many complex legal, ethical, and practical challenges. These are particularly salient in autism research, where concerns have been raised about researchers' intentions, research priorities not aligning with those …

gb, ca, ie, fr, ch, us (code pays fourni par la source)

1 citation PLOS Digital Health
Accès ouvert 2022 article OpenAlex

Variant‐level matching for diagnosis and discovery: Challenges and opportunities

Eliete da S. Rodrigues, Sean Griffith, Renan Paulo Martin, Corina Antonescu et autres

Here we describe MyGene2, Geno2MP, VariantMatcher, and Franklin; databases that provide variant-level information and phenotypic features to researchers, clinicians, healthcare providers and patients. Following the footsteps of the Matchmaker Exchange project that connects exome, genome, and phenotype databases at the gene level, …

us (code pays fourni par la source)

45 citations Human Mutation
Accès ouvert 2021 preprint OpenAlex

Variant-level Matching Tools

Eliete da S. Rodrigues, Sean Griffith, Renan Paulo Martin, Corina Antonescu et autres

Here we describe MyGene2, Geno2MP, VariantMatcher, and Franklin; databases that have made variant-level information together with phenotype or phenotypic features available to researchers, clinicians, health care providers and patients. Following in the footsteps of the Matchmaker Exchange project that connects exome, genome, …

us, fr (code pays fourni par la source)

0 citations
Accès ouvert 2021 article OpenAlex

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Heidi L. Rehm, Angela Page, Lindsay Smith, Jeremy Adams et autres

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular …

us, ca, ch, gb, es, au, qa, hk, cz, at, tw, sg, jp (code pays fourni par la source)

325 citations Cell Genomics
Accès ouvert 2018 article OpenAlex

Registered access: authorizing data access

Stephanie O. M. Dyke, Mikael Lindén, Ilkka Lappalainen, Jordi Rambla et autres

The Global Alliance for Genomics and Health (GA4GH) proposes a data access policy model-"registered access"-to increase and improve access to data requiring an agreement to basic terms and conditions, such as the use of DNA sequence and health data in research. A …

ca, fi, gb, es, ch, us, be, au, jp (code pays fourni par la source)

49 citations European Journal of Human Genetics

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