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16 p, 3.9 MB GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing / Valls-Margarit, Jordi (Barcelona Supercomputing Center) ; Galván-Femenía, Iván (Institut Germans Trias i Pujol) ; Matías-Sánchez, Daniel (Barcelona Supercomputing Center) ; Blay, Natalia (Institut Germans Trias i Pujol) ; Puiggròs, Montserrat (Barcelona Supercomputing Center) ; Carreras Nolla, Anna (Institut Germans Trias i Pujol) ; Salvoro, Cecilia (Barcelona Supercomputing Center) ; Cortés, Beatriz (Institut Germans Trias i Pujol) ; Amela, Ramon (Barcelona Supercomputing Center) ; Farre, Xavier (Institut Germans Trias i Pujol) ; Lerga Jaso, Jon (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Puig Font, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Sánchez-Herrero, Jose Francisco (Institut Germans Trias i Pujol) ; Moreno Aguado, Víctor (Universitat de Barcelona) ; Perucho, Manuel (Institut Germans Trias i Pujol) ; Sumoy, Lauro (Institut Germans Trias i Pujol) ; Armengol, Lluís (Quantitative Genomic Medicine Laboratories) ; Delaneau, Olivier (University of Lausanne. Department of Computational Biology) ; Cáceres Aguilar, Mario (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; de Cid, Rafael (Institut Germans Trias i Pujol) ; Torrents, David (Barcelona Supercomputing Center)
The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture of human diseases. However, genetic studies are mainly based on single nucleotide variants (SNVs) and small insertions and deletions (indels). [...]
2022 - 10.1093/nar/gkac076
Nucleic acids research, Vol. 50, Issue 5 (March 2022) , p. 2464-2479  
Detailed record - Creative Commons

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