Rare-disease genetics in the era of next-generation sequencing: discovery to translation

By K. Boycott, Megan R. Vanstone, D. Bulman, A. MacKenzie. Nature reviews genetics, 2013

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DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins (2017, methodology): “After pressing ‘Submit sequence’, the variant is visualized in the page report (3) which contains two sections.”
Extracting research-quality phenotypes from electronic health records to support precision medicine (2015, background): “Similarly, more recent efforts to look at rare variants through next-generation sequencing technologies have identified causative SNPs for rare diseases [3] as well as important modulators for some common diseases [4-6].”
Next-generation diagnostics and disease-gene discovery with the Exomiser (2015, methodology): “The analysis of whole-exome data involves a pipeline of steps, including quality control 53 , the reference-guided alignment of NGS reads by programs such as BWA 54 , variant calling with tools such as GATK 55 , and the interpretation of the called variants.”