Inferring compound heterozygosity from large-scale exome sequencing data

gnomAD Project Consortium; Michael H. Guo; Laurent C. Francioli; Sarah L. Stenton; Julia K. Goodrich; Nicholas A. Watts; Moriel Singer-Berk; Emily Groopman; Philip W. Darnowsky; Matthew Solomonson; Samantha Baxter; Grace Tiao; Benjamin M. Neale; Joel N. Hirschhorn; Heidi L. Rehm; Mark J. Daly; Anne O'Donnell-Luria; Konrad J. Karczewski; Daniel G. MacArthur; Kaitlin E. Samocha; Aarno Palotie; Martti Färkkilä; Jaakko Kaprio; Leif Groop; Samuli Ripatti; Tiinamaija Tuomi; Maija Wessman; Matti M. Holi; Mikko Kallela; Seppo Koskinen; Erkki Vartiainen; Veikko Salomaa; Jaana Suvisaari

doi:10.1038/s41588-023-01608-3

Inferring compound heterozygosity from large-scale exome sequencing data

gnomAD Project Consortium, Michael H. Guo, Laurent C. Francioli, Sarah L. Stenton, Julia K. Goodrich, Nicholas A. Watts, Moriel Singer-Berk, Emily Groopman, Philip W. Darnowsky, Matthew Solomonson, Samantha Baxter, Grace Tiao, Benjamin M. Neale, Joel N. Hirschhorn, Heidi L. Rehm, Mark J. Daly, Anne O'Donnell-Luria, Konrad J. Karczewski, Daniel G. MacArthur, Kaitlin E. SamochaAarno Palotie, Martti Färkkilä, Jaakko Kaprio, Leif Groop, Samuli Ripatti, Tiinamaija Tuomi, Maija Wessman, Matti M. Holi, Mikko Kallela, Seppo Koskinen, Erkki Vartiainen, Veikko Salomaa, Jaana Suvisaari

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Nature Genetics
Volym	56
Nummer	1
Sidor (från-till)	152–161
Antal sidor	18
ISSN	1061-4036
DOI	https://doi.org/10.1038/s41588-023-01608-3
Status	Publicerad - 2024
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

1184 Genetik, utvecklingsbiologi, fysiologi

Åtkomst av dokument

10.1038/s41588-023-01608-3

Citera det här

gnomAD Project Consortium, Guo, M. H., Francioli, L. C., Stenton, S. L., Goodrich, J. K., Watts, N. A., Singer-Berk, M., Groopman, E., Darnowsky, P. W., Solomonson, M., Baxter, S., Tiao, G., Neale, B. M., Hirschhorn, J. N., Rehm, H. L., Daly, M. J., O'Donnell-Luria, A., Karczewski, K. J., MacArthur, D. G., ... Suvisaari, J. (2024). Inferring compound heterozygosity from large-scale exome sequencing data. Nature Genetics, 56(1), 152–161. https://doi.org/10.1038/s41588-023-01608-3

@article{e5a886fa77de43e99da3fe9a40ab3d1f,

title = "Inferring compound heterozygosity from large-scale exome sequencing data",

keywords = "Mutation-rate, Haplotype, Pathogenicity, 1184 Genetics, developmental biology, physiology",

author = "{gnomAD Project Consortium} and Guo, {Michael H.} and Francioli, {Laurent C.} and Stenton, {Sarah L.} and Goodrich, {Julia K.} and Watts, {Nicholas A.} and Moriel Singer-Berk and Emily Groopman and Darnowsky, {Philip W.} and Matthew Solomonson and Samantha Baxter and Grace Tiao and Neale, {Benjamin M.} and Hirschhorn, {Joel N.} and Rehm, {Heidi L.} and Daly, {Mark J.} and Anne O'Donnell-Luria and Karczewski, {Konrad J.} and MacArthur, {Daniel G.} and Samocha, {Kaitlin E.} and Aarno Palotie and Martti F{\"a}rkkil{\"a} and Jaakko Kaprio and Leif Groop and Samuli Ripatti and Tiinamaija Tuomi and Maija Wessman and Holi, {Matti M.} and Mikko Kallela and Seppo Koskinen and Erkki Vartiainen and Veikko Salomaa and Jaana Suvisaari",

year = "2024",

doi = "10.1038/s41588-023-01608-3",

language = "English",

volume = "56",

pages = "152–161",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research ",

number = "1",

}

gnomAD Project Consortium, Guo, MH, Francioli, LC, Stenton, SL, Goodrich, JK, Watts, NA, Singer-Berk, M, Groopman, E, Darnowsky, PW, Solomonson, M, Baxter, S, Tiao, G, Neale, BM, Hirschhorn, JN, Rehm, HL, Daly, MJ, O'Donnell-Luria, A, Karczewski, KJ, MacArthur, DG, Samocha, KE, Palotie, A , Färkkilä, M , Kaprio, J , Groop, L , Ripatti, S , Tuomi, T , Wessman, M , Holi, MM , Kallela, M, Koskinen, S, Vartiainen, E, Salomaa, V & Suvisaari, J 2024, 'Inferring compound heterozygosity from large-scale exome sequencing data', Nature Genetics, vol. 56, nr. 1, s. 152–161. https://doi.org/10.1038/s41588-023-01608-3

TY - JOUR

T1 - Inferring compound heterozygosity from large-scale exome sequencing data

AU - gnomAD Project Consortium

AU - Guo, Michael H.

AU - Francioli, Laurent C.

AU - Stenton, Sarah L.

AU - Goodrich, Julia K.

AU - Watts, Nicholas A.

AU - Singer-Berk, Moriel

AU - Groopman, Emily

AU - Darnowsky, Philip W.

AU - Solomonson, Matthew

AU - Baxter, Samantha

AU - Tiao, Grace

AU - Neale, Benjamin M.

AU - Hirschhorn, Joel N.

AU - Rehm, Heidi L.

AU - Daly, Mark J.

AU - O'Donnell-Luria, Anne

AU - Karczewski, Konrad J.

AU - MacArthur, Daniel G.

AU - Samocha, Kaitlin E.

AU - Palotie, Aarno

AU - Färkkilä, Martti

AU - Kaprio, Jaakko

AU - Groop, Leif

AU - Ripatti, Samuli

AU - Tuomi, Tiinamaija

AU - Wessman, Maija

AU - Holi, Matti M.

AU - Kallela, Mikko

AU - Koskinen, Seppo

AU - Vartiainen, Erkki

AU - Salomaa, Veikko

AU - Suvisaari, Jaana

PY - 2024

Y1 - 2024

KW - Mutation-rate

KW - Haplotype

KW - Pathogenicity

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1038/s41588-023-01608-3

DO - 10.1038/s41588-023-01608-3

M3 - Article

C2 - 38057443

SN - 1061-4036

VL - 56

SP - 152

EP - 161

JO - Nature Genetics

JF - Nature Genetics

IS - 1

ER -