Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism

Item
http://www.wikidata.org/entity/Q34682335
Progress in methods for rare variant associationRole of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Integrative analysis of functional genomic annotations and sequencing data to identify rare causal variants via hierarchical modeling.Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.Rare Variants Association Analysis in Large-Scale Sequencing Studies at the Single Locus LevelA spectral approach integrating functional genomic annotations for coding and noncoding variants.Beyond Rare-Variant Association Testing: Pinpointing Rare Causal Variants in Case-Control Sequencing StudyConditioning adaptive combination of P-values method to analyze case-parent trios with or without population controls.Unified Sequence-Based Association Tests Allowing for Multiple Functional Annotations and Meta-Analysis of Noncoding Variation in Metabochip Data.A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.A Zoom-Focus algorithm (ZFA) to locate the optimal testing region for rare variant association tests.Genetic variation in FAAH is associated with cannabis use disorders in a young adult sample of Mexican Americans.Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.FineMAV: prioritizing candidate genetic variants driving local adaptations in human populations.
P2860

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism

Item
http://www.wikidata.org/entity/Q34682335
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Identification of rare causal ...... d in Cohen syndrome and autism
@ast
Identification of rare causal ...... d in Cohen syndrome and autism
@en
Identification of rare causal ...... d in Cohen syndrome and autism
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type
label
Identification of rare causal ...... d in Cohen syndrome and autism
@ast
Identification of rare causal ...... d in Cohen syndrome and autism
@en
Identification of rare causal ...... d in Cohen syndrome and autism
@nl
prefLabel
Identification of rare causal ...... d in Cohen syndrome and autism
@ast
Identification of rare causal ...... d in Cohen syndrome and autism
@en
Identification of rare causal ...... d in Cohen syndrome and autism
@nl
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Identification of rare causal ...... d in Cohen syndrome and autism
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10.1371/JOURNAL.PGEN.1004729
P433
P478
P50
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P5875
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P921
P932