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Inferring compound heterozygosity from large-scale exome sequencing data

Year of publication

2024

Authors

gnomAD Project Consortium; Guo, Michael H.; Francioli, Laurent C.; Stenton, Sarah L.; Goodrich, Julia K.; Watts, Nicholas A.; Singer-Berk, Moriel; Groopman, Emily; Darnowsky, Philip W.; Solomonson, Matthew; Baxter, Samantha; Tiao, Grace; Neale, Benjamin M.; Hirschhorn, Joel N.; Rehm, Heidi L.; Daly, Mark J.; O'Donnell-Luria, Anne; Karczewski, Konrad J.; MacArthur, Daniel G.; Samocha, Kaitlin E.
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Organizations and authors

University of Helsinki

Palotie Aarno

Neale Benjamin M.

Vartiainen Erkki

Kaprio Jaakko

Groop Leif

Wessman Maija

Daly Mark J.

Färkkilä Martti

Holi Matti M.

Kallela Mikko

Ripatti Samuli

Tuomi Tiinamaija

Helsinki University Hospital Catchment Area

Palotie Aarno

Neale Benjamin M.

Vartiainen Erkki

Kaprio Jaakko

Groop Leif

Wessman Maija

Daly Mark J.

Färkkilä Martti

Holi Matti M.

Kallela Mikko

Ripatti Samuli

Tuomi Tiinamaija

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal

Nature genetics

Parent publication name

Nature Genetics

Volume

56

Issue

1

Pages

152–161

ISSN

1061-4036

​Publication forum

63767

​Publication forum level

3

Open access

Open access in the publisher’s service

No

Self-archived

No

Other information

Fields of science

Genetics, developmental biology, physiology

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

No

DOI

10.1038/s41588-023-01608-3

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes