Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

GoT2D T2D-GENES Consortium, SIGMA Consortium Helmsley IBD Exom, FinMetSeq Consortium, iPSYCH-Broad Consortium, Andrea Ganna, Mitja Kurki, Aki S. Havulinna, Elmo Saarentaus, Samuli Ripatti, Eija Hämäläinen, Jukka S. Moilanen, Outi Kuismin, Aarno Palotie, Benjamin M. Neale

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalAmerican Journal of Human Genetics
Volume102
Issue number6
Pages (from-to)1204-1211
Number of pages8
ISSN0002-9297
DOIs
Publication statusPublished - 7 Jun 2018
MoE publication typeA1 Journal article-refereed

Fields of Science

  • VARIANT ASSOCIATION
  • GENERAL-POPULATION
  • DISORDERS
  • GENOME
  • MUTATIONS
  • DISEASE
  • SAMPLES
  • AUTISM
  • RISK
  • 3111 Biomedicine
  • 1184 Genetics, developmental biology, physiology

Cite this

GoT2D T2D-GENES Consortium, SIGMA Consortium Helmsley IBD Exom, FinMetSeq Consortium, iPSYCH-Broad Consortium, Ganna, A., Kurki, M., ... Neale, B. M. (2018). Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. American Journal of Human Genetics, 102(6), 1204-1211. https://doi.org/10.1016/j.ajhg.2018.05.002
GoT2D T2D-GENES Consortium ; SIGMA Consortium Helmsley IBD Exom ; FinMetSeq Consortium ; iPSYCH-Broad Consortium ; Ganna, Andrea ; Kurki, Mitja ; Havulinna, Aki S. ; Saarentaus, Elmo ; Ripatti, Samuli ; Hämäläinen, Eija ; Moilanen, Jukka S. ; Kuismin, Outi ; Palotie, Aarno ; Neale, Benjamin M. / Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. In: American Journal of Human Genetics. 2018 ; Vol. 102, No. 6. pp. 1204-1211.
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title = "Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum",
keywords = "VARIANT ASSOCIATION, GENERAL-POPULATION, DISORDERS, GENOME, MUTATIONS, DISEASE, SAMPLES, AUTISM, RISK, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",
author = "{GoT2D T2D-GENES Consortium} and {SIGMA Consortium Helmsley IBD Exom} and {FinMetSeq Consortium} and {iPSYCH-Broad Consortium} and Andrea Ganna and Satterstrom, {F. Kyle} and Zekavat, {Seyedeh M.} and Indraniel Das and Mitja Kurki and Claire Churchhouse and Jessica Alfoldi and Martin, {Alicia R.} and Havulinna, {Aki S.} and Andrea Byrnes and Thompson, {Wesley K.} and Nielsen, {Philip R.} and Karczewski, {Konrad J.} and Elmo Saarentaus and Rivas, {Manuel A.} and Namrata Gupta and Olli Pietilainen and Emdin, {Connor A.} and Francesco Lescai and Jonas Bybjerg-Grauholm and Jason Flannick and Mercader, {Josep M.} and Miriam Udler and Markku Laakso and Veikko Salomaa and Christina Hultman and Samuli Ripatti and Eija H{\"a}m{\"a}l{\"a}inen and Moilanen, {Jukka S.} and Jarmo Korkko and Outi Kuismin and Merete Nordentoft and Hougaard, {David M.} and Ole Mors and Thomas Werge and Mortensen, {Preben Bo} and Daniel MacArthur and Daly, {Mark J.} and Sullivan, {Patrick F.} and Locke, {Adam E.} and Aarno Palotie and Borglum, {Anders D.} and Sekar Kathiresan and Neale, {Benjamin M.}",
year = "2018",
month = "6",
day = "7",
doi = "10.1016/j.ajhg.2018.05.002",
language = "English",
volume = "102",
pages = "1204--1211",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
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}

GoT2D T2D-GENES Consortium, SIGMA Consortium Helmsley IBD Exom, FinMetSeq Consortium, iPSYCH-Broad Consortium, Ganna, A, Kurki, M, Havulinna, AS, Saarentaus, E, Ripatti, S, Hämäläinen, E, Moilanen, JS, Kuismin, O, Palotie, A & Neale, BM 2018, 'Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum', American Journal of Human Genetics, vol. 102, no. 6, pp. 1204-1211. https://doi.org/10.1016/j.ajhg.2018.05.002

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. / GoT2D T2D-GENES Consortium; SIGMA Consortium Helmsley IBD Exom; FinMetSeq Consortium; iPSYCH-Broad Consortium; Ganna, Andrea; Kurki, Mitja; Havulinna, Aki S.; Saarentaus, Elmo; Ripatti, Samuli; Hämäläinen, Eija; Moilanen, Jukka S.; Kuismin, Outi; Palotie, Aarno; Neale, Benjamin M.

In: American Journal of Human Genetics, Vol. 102, No. 6, 07.06.2018, p. 1204-1211.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

AU - GoT2D T2D-GENES Consortium

AU - SIGMA Consortium Helmsley IBD Exom

AU - FinMetSeq Consortium

AU - iPSYCH-Broad Consortium

AU - Ganna, Andrea

AU - Satterstrom, F. Kyle

AU - Zekavat, Seyedeh M.

AU - Das, Indraniel

AU - Kurki, Mitja

AU - Churchhouse, Claire

AU - Alfoldi, Jessica

AU - Martin, Alicia R.

AU - Havulinna, Aki S.

AU - Byrnes, Andrea

AU - Thompson, Wesley K.

AU - Nielsen, Philip R.

AU - Karczewski, Konrad J.

AU - Saarentaus, Elmo

AU - Rivas, Manuel A.

AU - Gupta, Namrata

AU - Pietilainen, Olli

AU - Emdin, Connor A.

AU - Lescai, Francesco

AU - Bybjerg-Grauholm, Jonas

AU - Flannick, Jason

AU - Mercader, Josep M.

AU - Udler, Miriam

AU - Laakso, Markku

AU - Salomaa, Veikko

AU - Hultman, Christina

AU - Ripatti, Samuli

AU - Hämäläinen, Eija

AU - Moilanen, Jukka S.

AU - Korkko, Jarmo

AU - Kuismin, Outi

AU - Nordentoft, Merete

AU - Hougaard, David M.

AU - Mors, Ole

AU - Werge, Thomas

AU - Mortensen, Preben Bo

AU - MacArthur, Daniel

AU - Daly, Mark J.

AU - Sullivan, Patrick F.

AU - Locke, Adam E.

AU - Palotie, Aarno

AU - Borglum, Anders D.

AU - Kathiresan, Sekar

AU - Neale, Benjamin M.

PY - 2018/6/7

Y1 - 2018/6/7

KW - VARIANT ASSOCIATION

KW - GENERAL-POPULATION

KW - DISORDERS

KW - GENOME

KW - MUTATIONS

KW - DISEASE

KW - SAMPLES

KW - AUTISM

KW - RISK

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1016/j.ajhg.2018.05.002

DO - 10.1016/j.ajhg.2018.05.002

M3 - Article

VL - 102

SP - 1204

EP - 1211

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 6

ER -

GoT2D T2D-GENES Consortium, SIGMA Consortium Helmsley IBD Exom, FinMetSeq Consortium, iPSYCH-Broad Consortium, Ganna A, Kurki M et al. Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. American Journal of Human Genetics. 2018 Jun 7;102(6):1204-1211. https://doi.org/10.1016/j.ajhg.2018.05.002