Mapping the proteo-genomic convergence of human diseases | Zendy

Maik Pietzner | Zendy; Eleanor Wheeler | Zendy; Julia Carrasco-Zanini | Zendy; Adrián Cortés | Zendy; Mine Koprulu | Zendy; Maria A. Wörheide | Zendy; Erin Oerton | Zendy; James Cook | Zendy; Isobel D. Stewart | Zendy; Nicola D. Kerrison | Zendy; Jian’an Luan | Zendy; Johannes Raffler | Zendy; Matthias Arnold | Zendy; Wiebke Arlt | Zendy; Stephen O’Rahilly | Zendy; Gabi Kastenmüller | Zendy; Eric R. Gamazon | Zendy; Aroon D. Hingorani | Zendy; Robert A. Scott | Zendy; Nicholas J. Wareham | Zendy; Claudia Langenberg | Zendy

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Mapping the proteo-genomic convergence of human diseases

Author(s) -

Maik Pietzner,

Eleanor Wheeler,

Julia Carrasco-Zanini,

Adrián Cortés,

Mine Koprulu,

Maria A. Wörheide,

Erin Oerton,

James Cook,

Isobel D. Stewart,

Nicola D. Kerrison,

Jian’an Luan,

Johannes Raffler,

Matthias Arnold,

Wiebke Arlt,

Stephen O’Rahilly,

Gabi Kastenmüller,

Eric R. Gamazon,

Aroon D. Hingorani,

Robert A. Scott,

Nicholas J. Wareham,

Claudia Langenberg

Publication year - 2021

Publication title -

science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 12.556

H-Index - 1186

eISSN - 1095-9203

pISSN - 0036-8075

DOI - 10.1126/science.abj1541

Subject(s) - convergence (economics) , computational biology , biology , computer science , genetics , economics , economic growth

Detangling gene-disease connections Many diseases are at least partially due to genetic causes that are not always understood or targetable with specific treatments. To provide insight into the biology of various human diseases as well as potential leads for therapeutic development, Pietzneret al . undertook detailed, genome-wide proteogenomic mapping. The authors analyzed thousands of connections between potential disease-associated mutations, specific proteins, and medical conditions, thereby providing a detailed map for use by future researchers. They also supplied some examples in which they applied their approach to medical contexts as varied as connective tissue disorders, gallstones, and COVID-19 infections, sometimes even identifying single genes that play roles in multiple clinical scenarios. —YN

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