About the Authors

Kimberly Gall

Roles Data curation, Formal analysis, Writing – original draft, Writing – review & editing

Affiliation Blueprint Genetics Inc, Seattle, Washington, United States of America

Emanuela Izzo

Roles Supervision, Writing – review & editing

Affiliation Biomarin Pharmaceutical, Novato, California, United States of America

Eija H. Seppälä

Roles Data curation, Writing – review & editing

Affiliation Blueprint Genetics Oy, Espoo, Finland

Kirsi Alakurtti

Roles Data curation, Writing – review & editing

Affiliation Blueprint Genetics Oy, Espoo, Finland

Lotta Koskinen

Roles Data curation, Writing – review & editing

Affiliation Blueprint Genetics Oy, Espoo, Finland

Inka Saarinen

Roles Data curation, Writing – review & editing

Affiliation Blueprint Genetics Oy, Espoo, Finland

Akashdeep Singh

Roles Conceptualization, Writing – review & editing

Affiliation Biomarin Pharmaceutical, Novato, California, United States of America

Samuel Myllykangas

Roles Methodology, Writing – review & editing

Affiliation Blueprint Genetics Oy, Espoo, Finland

Juha Koskenvuo

Roles Supervision, Writing – review & editing

Affiliation Blueprint Genetics Oy, Espoo, Finland

Tero-Pekka Alastalo

Roles Conceptualization, Writing – original draft, Writing – review & editing

tero-pekka.alastalo@blueprintgenetics.com

Affiliation Blueprint Genetics Inc, Seattle, Washington, United States of America

Competing Interests

KG, ES, KA, LK and IS are full-time employees of Blueprint Genetics, a Quest Diagnostics company (blueprintgenetics.com). SM, JK and T-PA are full-time employees of Blueprint Genetics and hold stock options in Quest Diagnostics. EI and AS are full-time employees of BioMarin Pharmaceutical (biomarin.com), a biopharmaceutical company. EI holds stock options in BioMarin Pharmaceutical. This does not alter our adherence to PLOS ONE policies on sharing data and materials. In addition, there are no patents, products in development or marketed products to declare.