Associated Papers
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
38633426 (PubMed )
Supplement: lqae033_supplemental_files.zip › Supplementary_Table_1.xlsx › Supplementary_Table_1
Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.
Georges A et al.
Cardiovascular Research, 2021
32531060 (PubMed )
Supplement: cvaa161_supplementary_data.docx
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-13.xlsx › S_Data_12
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Tarpey PS et al.
Nature Genetics, 2009
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