A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
N Nabavizadeh, A Bressin, M Shboul… - EMBO Molecular …, 2023 - embopress.org
Exome sequencing has introduced a paradigm shift for the identification of germline
variations responsible for Mendelian diseases. However, non‐coding regions, which make
up 98% of the genome, cannot be captured. The lack of functional annotation for intronic and
intergenic variants makes RNA‐seq a powerful companion diagnostic. Here, we illustrate
this point by identifying six patients with a recessive Osteogenesis Imperfecta (OI) and
neonatal progeria syndrome. By integrating homozygosity mapping and RNA‐seq, we …
variations responsible for Mendelian diseases. However, non‐coding regions, which make
up 98% of the genome, cannot be captured. The lack of functional annotation for intronic and
intergenic variants makes RNA‐seq a powerful companion diagnostic. Here, we illustrate
this point by identifying six patients with a recessive Osteogenesis Imperfecta (OI) and
neonatal progeria syndrome. By integrating homozygosity mapping and RNA‐seq, we …
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