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The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
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Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
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TAPES: A tool for assessment and prioritisation in exome studies.
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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
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CharGer: clinical Characterization of Germline variants.
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Bioinformatics (oxford, England), 2019
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Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
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Human Genomics, 2019
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A Bayesian framework for efficient and accurate variant prediction.
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