Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases-Reference-Cited by-同舟云学术

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

Published:2023-02 Issue:2 Volume:3 Page:100246
ISSN:2666-979X
Container-title:Cell Genomics
language:en
Short-container-title:Cell Genomics

Author:

Corvò Alberto^ORCID,Matalonga Leslie,Spalding Dylan,Senf Alexander,Laurie Steven,Picó-Amador Daniel,Fernandez-Callejo Marcos,Paramonov Ida,Romero Anna Foix,Garcia-Rios Emilio,Ciges Jorge Izquierdo,Mohan Anand,Thomas Coline,Silva Valencia Andres Felipe,Halmagyi Csaba,Freeberg Mallory Ann,Töpf Ana,Horvath Rita,Saunders Gary,Gut Ivo,Keane Thomas,Piscia Davide,Beltran Sergi^ORCID

Publisher

Elsevier BV

Subject

Genetics,Biochemistry, Genetics and Molecular Biology (miscellaneous)

Reference19 articles.

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2. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions;Farwell;Genet. Med.,2015

3. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders;Stark;Genet. Med.,2016

4. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data;Wright;Lancet,2015

5. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases;Zurek;Eur. J. Hum. Genet.,2021

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1. A unified data infrastructure to support large-scale rare disease research;2023-12-20