We weren't expecting "fireworks" at the beginning of this year, but science is like this...
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We are delighted to share this new collaborative study that highlights the importance of family history in fibrotic ILDs: respiratory-research.biomedc…

Diagnostic and prognostic implications of family history of fibrotic interstitial lung diseases

Respiratory Research - Patients with familial fibrotic interstitial lung disease (ILD) experience worse survival than patients with sporadic disease. Current guidelines do not consider family...

link.springer.com
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We are pleased to share a new review study briefly summarizing the knowledge gap regarding the genetic factors influencing the corticosteroid response: mdpi.com/1422-0067/25/24/136…

Defining the Differential Corticosteroid Response Basis from Multiple Omics Approaches

Since their discovery, corticosteroids have been widely used in the treatment of several diseases, including asthma, acute lymphoblastic leukemia, chronic obstructive pulmonary disease, and many...

mdpi.com
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Thrilled to share our proposal strategy for genetic screening in families affected with pulmonary fibrosis and its application in families from Gran Canaria: nature.com/articles/s41431-0…
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Hot from the oven! Excited to share this new contribution of our team to create a small variant benchmark set in chromosomes X and Y as part of the GIAB consortium efforts: nature.com/articles/s41467-0…

Small variant benchmark from a complete assembly of X and Y chromosomes

Nature Communications - The paper describes a Genome in a Bottle benchmark for the X and Y chromosomes enabled by complete chromosome assemblies. This benchmark enables users to evaluate small...

nature.com
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