Top 10 Downloaded Articles in 2019

We want to thank the authors of our most downloaded articles during 2019, and highlight to our readers some of the most impactful research to have published in the journal. We hope that you will find the data interesting!

Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectivesJia Xu et al., Hum Genet 138, 109–124 (2019).

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions. Marjo K. Hytönen & Hannes Lohi, Hum Genet 138, 535–539 (2019).

Genetic association and differential expression of PITX2 with acute appendicitis. Ekaterina Orlova, John R. Shaffer, Michael J. Morowitz et al., Hum Genet 138, 37–47 (2019).

Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia.  Richard Milne, Anna Middleton et al. on behalf of the Participant Values Work Stream of the Global Alliance for Genomics and Health, Hum Genet 138, 1237–1246 (2019).

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer. Stephanie A. Bien et al., Hum Genet 138, 307–326 (2019). 

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. 
Marjo K. Hytönen, Hannes Lohi et al., Hum Genet 138, 525–533 (2019).

Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus. Jonas Carlsson Almlöf et al., Hum Genet 138, 141–150 (2019).

Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution. Ian T. Fiddes, James M. Sikela et al., Hum Genet 138, 715–721 (2019).

Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches. Katarzyna Zaorska et al. Hum Genet 138, 635–647 (2019).

Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines. Lisa G. Shaffer et al., Hum Genet 138, 501–508 (2019).