Categoría: Articulos
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Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes
Breast cancer risk after ovarian cancer in germline BRCA1/2 heterozygotes remains uncertain, with a recent large multicentre international study reporting lower-than-expected incidence in the first decade after ovarian cancer diagnosis (Apostol et al. …
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Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population
Deafness is a common multifactorial sensory disorder with numerous underlying causes (genetic, environmental) and a broad range of impact on humans. To date, 156 non-syndromic hearing loss-associated genes have been identified (DFN) and 75%–80% f…
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Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes
Analysis of germline and somatic cancer variants across 40 tumor suppressor genes (TSGs) revealed
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RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium
Using RNA and mESC functional analyses of 166 BRCA1 exon 18 variants, this ENIGMA study defines evidence-based thresholds for interpreting variants that induce skipping of this in-frame exon. The findings demonstrate that exon 18 skipping is poorly tol…
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Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
Cheng et al. introduce IsoRanker, a long-read transcriptome sequencing-based framework that prioritizes functionally relevant variants by detecting genes and isoforms with outlier expression, allelic imbalance, and/or nonsense-mediated decay (NMD). App…
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New clues to the genetic roots of hair-pulling and skin-picking
Two disorders with big names—trichotillomania (repeated hair-pulling) and excoriation disorder (repeated skin-picking)—were the focus of a recent Yale study looking at potential genetic causes. The two disorders are part of a group called body-focused …
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New clues to the genetic roots of hair-pulling and skin-picking
Two disorders with big names—trichotillomania (repeated hair-pulling) and excoriation disorder (repeated skin-picking)—were the focus of a recent Yale study looking at potential genetic causes. The two disorders are part of a group called body-focused …
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Five-year clinical outcomes and costs of burn injuries: a portrait of burn care in Quebec, Canada
Background Objective Methods Results …