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Drug design

Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis

Maria Teresa Pagliari, Andrea Cairo, [ ... ], Flora Peyvandi

Prioritization of candidate genes for a South African family with Parkinson’s disease using in-silico tools

Boiketlo Sebate, Katelyn Cuttler, [ ... ], Soraya Bardien

Novel genetic variants of inborn errors of immunity

Farida Almarzooqi, Abdul-Kader Souid, Ranjit Vijayan, Suleiman Al-Hammadi

SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants

Wei-Chih Huang, Hsin-Tzu Huang, [ ... ], Hsien-Da Huang

MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants

Kirsley Chennen, Thomas Weber, [ ... ], Olivier Poch

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

Clara Benoit-Pilven, Alicia Besson, [ ... ], Sylvie Mazoyer

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

Rong Zhang, Jan Gehlen, [ ... ], Heiko Reutter

Phenogenon: Gene to phenotype associations for rare genetic diseases

Nikolas Pontikos, Cian Murphy, [ ... ], UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium

Whole genome sequencing and rare variant analysis in essential tremor families

Zagaa Odgerel, Shilpa Sonti, [ ... ], Lorraine N. Clark

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth

Ellika Sahlin, Anna Gréen, [ ... ], Erik Iwarsson

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent

Sionne E. M. Lucas, Tiger Zhou, [ ... ], Kathryn P. Burdon

Generalising better: Applying deep learning to integrate deleteriousness prediction scores for whole-exome SNV studies

Ilia Korvigo, Andrey Afanasyev, Nikolay Romashchenko, Mikhail Skoblov

Overall survival in EGFR mutated non-small-cell lung cancer patients treated with afatinib after EGFR TKI and resistant mechanisms upon disease progression

A. J. van der Wekken, J. L. Kuiper, [ ... ], H. J. M. Groen

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