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

doi:10.1016/j.ajhg.2018.05.002

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

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

American journal of human genetics - 7 Jun 2018

Ganna Andrea, Satterstrom F Kyle, Zekavat Seyedeh M, Das Indraniel, Kurki Mitja I, Churchhouse Claire, Alfoldi Jessica, Martin Alicia R, Havulinna Aki S, Byrnes Andrea, Thompson Wesley K, Nielsen Philip R, Karczewski Konrad J, Saarentaus Elmo, Rivas Manuel A, Gupta Namrata, Pietiläinen Olli, Emdin Connor A, Lescai Francesco, Bybjerg-Grauholm Jonas, Flannick Jason, Mercader Josep M, Udler Miriam, Laakso Markku, Salomaa Veikko, Hultman Christina, Ripatti Samuli, Hämäläinen Eija, Moilanen Jukka S, Körkkö Jarmo, Kuismin Outi, Nordentoft Merete, Hougaard David M, Mors Ole, Werge Thomas, Mortensen Preben Bo, MacArthur Daniel, Daly Mark J, Sullivan Patrick F, Locke Adam E, Palotie Aarno, Børglum Anders D, Kathiresan Sekar, Neale Benjamin M

Abstract excerpt

There is a limited understanding about the impact of rare protein-truncating variants across multiple phenotypes. We explore the impact of this class of variants on 13 quantitative traits and 10 diseases using whole-exome sequencing data from 100,296 individuals. Protein-truncating variants in genes intolerant to this class of mutations increased risk of autism, schizophrenia, bipolar disorder, intellectual...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Databases, Genetic

Share to Ethnicity

Share to Genetic Predisposition to Disease

Share to Genome-Wide Association Study

Share to Mutation

Share to Open Reading Frames

Share to Phenotype

Share to Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 29861106
DOI: 10.1016/j.ajhg.2018.05.002
PMCID: PMC5992130

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.PMID 29861106Read ↗

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrumSemantic proximity Read ↗

Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.Semantic proximity Read ↗

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.Semantic proximity Read ↗

Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participantsSemantic proximity Read ↗

A deep catalog of protein-coding variation in 985,830 individualsSemantic proximity Read ↗

Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations.Semantic proximity Read ↗

Medical relevance of protein-truncating variants across 337,208 individuals in the UK Biobank studySemantic proximity Read ↗

Rare protein-coding variation and the genetic architecture of height in >1.4 million individualsSemantic proximity Read ↗

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.Semantic proximity Read ↗

Genetic Diversity in Schizophrenia: Developmental Implications of Ultra-Rare, Protein-Truncating Mutations.Semantic proximity Read ↗

A deep catalogue of protein-coding variation in 983,578 individuals.Semantic proximity Read ↗

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.