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Title:

Transcript expression-aware annotation improves rare variant interpretation

Document type:
Zeitschriftenaufsatz
Author(s):
Cummings, Beryl B.; Karczewski, Konrad J.; Kosmicki, Jack A.; Seaby, Eleanor G.; Watts, Nicholas A.; Singer-Berk, Moriel; Mudge, Jonathan M.; Karjalainen, Juha; Satterstrom, F. Kyle; O’Donnell-Luria, Anne H.; Poterba, Timothy; Seed, Cotton; Solomonson, Matthew; Alföldi, Jessica; Alföldi, Jessica; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Cummings, Beryl B.; Daly, Mark J.; Donnelly, Stacey; Farjoun, Yossi; Fe...     »
Journal title:
Nature
Year:
2020
Journal volume:
581
Journal issue:
7809
Pages contribution:
452-458
Fulltext / DOI:
doi:10.1038/s41586-020-2329-2
Publisher:
Springer Science and Business Media LLC
E-ISSN:
0028-08361476-4687
Date of publication:
27.05.2020
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