Academic Journal

Number of variants in six BRCA risk genes in the Iberian cohort before introduction of risk variants from ClinVar (counting only rare coding or splicing variants with CADD > 10).

التفاصيل البيبلوغرافية
العنوان: Number of variants in six BRCA risk genes in the Iberian cohort before introduction of risk variants from ClinVar (counting only rare coding or splicing variants with CADD > 10).
المؤلفون: Hana Susak (7172690), Laura Serra-Saurina (10170463), German Demidov (3463721), Raquel Rabionet (259091), Laura Domènech (10170466), Mattia Bosio (8327058), Francesc Muyas (8902295), Xavier Estivill (23803), Geòrgia Escaramís (5654806), Stephan Ossowski (209903)
سنة النشر: 2021
المجموعة: Smithsonian Institution: Digital Repository
مصطلحات موضوعية: Genetics, Neuroscience, Biotechnology, Cancer, Infectious Diseases, Plant Biology, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, EHMT, semi-synthetic whole-exome sequenci., candidate predisposition genes, variant association studies, BATI, phenotypic variance, variant Association Test, RVAS tests, Integrated Nested Laplace Approximation, rvGWAS, 7A, Chronic Lymphocytic Leukemia study, COPS
الوصف: Due to less than 100% variant call rates in some positions the number of possible cases and/or controls can be lower than total number of cases (389) and controls (778) used in the Iberian cohort. (DOCX)
نوع الوثيقة: article in journal/newspaper
اللغة: unknown
Relation: https://figshare.com/articles/journal_contribution/Number_of_variants_in_six_BRCA_risk_genes_in_the_Iberian_cohort_before_introduction_of_risk_variants_from_ClinVar_counting_only_rare_coding_or_splicing_variants_with_CADD_10_/14066338
DOI: 10.1371/journal.pcbi.1007784.s011
الاتاحة: https://doi.org/10.1371/journal.pcbi.1007784.s011
Rights: CC BY 4.0
رقم الانضمام: edsbas.D5C46981
قاعدة البيانات: BASE
الوصف
DOI:10.1371/journal.pcbi.1007784.s011