A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

BACKGROUND: Assessment of the clinical significance of unclassified variants (UVs) identified in BRCA1 and BRCA2 is very important for genetic counselling. The analysis of co-segregation of the variant with the disease in families is a powerful tool for the classification of these variants. Statisti...

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Huvudupphovsmän: Mohammadi, Leila, Vreeswijk, Maaike P, Oldenburg, Rogier, van den Ouweland, Ans, Oosterwijk, Jan C, van der Hout, Annemarie H, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn, Ausems, Margreet G, van der Luijt, Rob B, Dommering, Charlotte J, Gille, Johan J, Verhoef, Senno, Hogervorst, Frans B, van Os, Theo A, Gómez García, Encarna, Blok, Marinus J, Wijnen, Juul T, Helmer, Quinta, Devilee, Peter, van Asperen, Christi J, van Houwelingen, Hans C
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2009
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2714556/
https://ncbi.nlm.nih.gov/pubmed/19563646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2407-9-211
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