A. Muñoz-Barrera

发表

Evaluation of Whole-Exome Enrichment Solutions: Lessons from the High-End of the Short-Read Sequencing Scale

B. Guillen-Guio, I. Marcelino-Rodriguez, J. M. Lorenzo-Salazar, 2020, Journal of clinical medicine.

PCSK6 and Survival in Idiopathic Pulmonary Fibrosis

L. Wain, R. Allen, R. Hubbard, 2022, medRxiv.

Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation

I. Marcelino-Rodriguez, J. M. Lorenzo-Salazar, A. Corrales, 2020, Journal of medical Internet research.

Transactive Response DNA-Binding Protein (TARDBP/TDP-43) Regulates Cell Permissivity to HIV-1 Infection by Acting on HDAC6

J. M. Lorenzo-Salazar, R. Dorta-Guerra, C. Flores, 2022, International journal of molecular sciences.

Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders

B. Guillen-Guio, I. Marcelino-Rodriguez, J. M. Lorenzo-Salazar, 2022, Scientific Reports.

A benchmarking of human Y-chromosomal haplogroup classifiers from whole-genome and whole-exome sequence data

K. Veeramah, Mark George Thomas, S. Alonso, 2022, bioRxiv.

A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain)

I. Marcelino-Rodriguez, J. M. Lorenzo-Salazar, A. Corrales, 2022, Frontiers in Immunology.

From Samples to Germline and Somatic Sequence Variation: A Focus on Next-Generation Sequencing in Melanoma Research

J. M. Lorenzo-Salazar, R. González-Montelongo, Ana Díaz-de Usera, 2022, Life.

Digging into the admixture strata of current-day Canary Islanders based on mitogenomes

V. Cabrera, J. M. Lorenzo-Salazar, R. González-Montelongo, 2022, iScience.

Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes

Mark T. W. Ebbert, Nathan D. Olson, Karen H. Miga, 2021, bioRxiv.

PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions

Kai Wang, Benedict Paten, Andrew Carroll, 2020, bioRxiv.

Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers

I. Marcelino-Rodriguez, H. Rodríguez-Pérez, J. M. Lorenzo-Salazar, 2022, Human mutation.

Curated variation benchmarks for challenging medically-relevant autosomal genes

Mark T. W. Ebbert, Nathan D. Olson, Karen H. Miga, 2021, Nature Biotechnology.

Transactive response DNA-binding Protein (TDP-43) regulates early HIV-1 entry and infection

J. Blanco, J. M. Lorenzo-Salazar, R. González-Montelongo, 2021, bioRxiv.

Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation (Preprint)

I. Marcelino-Rodriguez, J. M. Lorenzo-Salazar, A. Corrales, 2020 .

A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data

J. M. Lorenzo-Salazar, R. González-Montelongo, David Jáspez, 2021, Scientific Reports.

Bioinformatic approaches to draft the viral genome sequence of Canary Islands cases related to the multicountry mpox virus 2022-outbreak

H. Rodríguez-Pérez, J. M. Lorenzo-Salazar, R. González-Montelongo, 2022, medRxiv.