Cristin-resultat-ID: 2076647
Sist endret: 3. februar 2023, 13:18
Resultat
Rapport
2022

The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: MoBaPsychGen pipeline v.1

Bidragsytere:
  • Elizabeth Claire Corfield
  • Oleksandr Frei
  • Alexey Shadrin
  • Zillur Rahman
  • Aihua Lin
  • Lavinia Athanasiu
  • mfl.

Utgiver/serie

Utgiver

Cold Spring Harbor Laboratory Press (CSHL)
NVI-nivå 1

Serie

bioRxiv
ISSN 2692-8205

Om resultatet

Rapport
Publiseringsår: 2022
Volum:
Hefte: 2022
Antall sider: 19

Klassifisering

Vitenskapsdisipliner

Genetikk og genomikk

Fagfelt (NPI)

Fagfelt: Biovitenskap
- Fagområde: Realfag og teknologi

Beskrivelse Beskrivelse

Tittel

The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: MoBaPsychGen pipeline v.1

Sammendrag

Background: The Norwegian Mother, Father, and Child Cohort Study (MoBa) is a population-based pregnancy cohort, which includes approximately 114,500 children, 95,200 mothers, and 75,200 fathers. Genotyping of MoBa has been conducted through multiple research projects, spanning several years; using varying selection criteria, genotyping arrays, and genotyping centres. MoBa contains numerous interrelated families, which necessitated the implementation of a family-based quality control (QC) pipeline that verifies and accounts for diverse types of relatedness. Methods: The MoBaPsychGen pipeline, comprising pre-imputation QC, phasing, imputation, and post-imputation QC, was developed based on current best-practice protocols and implemented to account for the complex structure of the MoBa genotype data. The pipeline includes QC on both single nucleotide polymorphism (SNP) and individual level. Phasing and imputation were performed using the publicly available Haplotype Reference Consortium release 1.1 panel as a reference. Information from the Medical Birth Registry of Norway and MoBa questionnaires were used to identify biological sex, year of birth, reported parent-offspring (PO) relationships, and multiple births (only available in the offspring generation). Results: In total, 207,569 unique individuals (90% of the unique individuals included in the study) and 6,981,748 SNPs passed the MoBaPsychGen pipeline. The relatedness checks performed throughout the pipeline allowed identification of within-generation and across-generation first-degree, second-degree, and third-degree relatives. The individuals passing post-imputation QC comprised 64,471 families ranging in size from singletons to 84 unique individuals (singletons are included as families as other family members may not have been genotyped, imputed, or passed post-imputation QC). The relationships identified include 287 monozygotic twin pairs, 22,884 full siblings, 117,004 PO pairs, 23,299 second-degree relative pairs, and 10,828 third-degree relative pairs. Discussion: MoBa contains a highly complex relatedness structure, with a variety of family structures including singletons, PO duos, full (mother, father, child) PO trios, nuclear families, blended families, and extended families. The availability of robustly quality-controlled genetic data for such a large cohort with a unique extended family structure will allow many novel research questions to be addressed. Furthermore, the MoBaPsychGen pipeline has potential utility in similar cohorts.

Bidragsytere

Elizabeth Claire Corfield

  • Tilknyttet:
    Forfatter
    ved Avdeling for psykiske lidelser ved Folkehelseinstituttet

Oleksandr Frei

  • Tilknyttet:
    Forfatter
    ved Senter for presisjonspsykiatri ved Universitetet i Oslo

Alexey Shadrin

  • Tilknyttet:
    Forfatter
    ved Senter for presisjonspsykiatri ved Universitetet i Oslo

Zillur Rahman

  • Tilknyttet:
    Forfatter
    ved Senter for presisjonspsykiatri ved Universitetet i Oslo

Aihua Lin

  • Tilknyttet:
    Forfatter
    ved Senter for presisjonspsykiatri ved Universitetet i Oslo
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