The efficiency of pooling in the detection of rare mutations

Extension of the Peters-Belson method to estimate health disparities among multiple groups using logistic regression with survey data.

Statistics in medicine·2014

Power and related statistical properties of conditional likelihood score tests for association studies in nuclear families with parental genotypes.

Annals of human genetics·2005

On the power of affected relative pair designs for linkage studies.

Annals of human genetics·2004

Robust TDT-type candidate-gene association tests.

Annals of human genetics·2002

Statistical properties of Teng and Risch's sibship type tests for detecting an association between disease and a candidate allele.

Human heredity·2002

Trend tests for case-control studies of genetic markers: power, sample size and robustness.

Human heredity·2002

A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity.

American journal of human genetics·2026

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes.

American journal of human genetics·2026

Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults.

American journal of human genetics·2026

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

American journal of human genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

American journal of human genetics·2026

Hologenomic interactions promote the higher-order evolvability of phenotypic complexity.

Trends in genetics : TIG·2026

Targeted insertion of an optimized donor DNA is effective in a humanized mouse model of dominant retinitis pigmentosa.

Cell reports. Medicine·2026

EULAR Rheumatology Open Special Issue titled 'VSI: ATT2026': the role of clonal haematopoiesis in immunological and rheumatological diseases.

EULAR rheumatology open·2026

Glutaminase contributes to MYC-induced cell-autonomous autophagy and to Ras V12 -dependent non-autonomous autophagy in the Drosophila wing disc epithelium.

bioRxiv : the preprint server for biology·2026

De novo Genes in Plants: Origins, Mechanisms, and Functional Implications.

Plant communications·2026

Scaling temporal resolution from mice to humans: Challenges and innovations in preclinical imaging of translational models.

The Journal of physiology·2026

Related Experiment Videos

The efficiency of pooling in the detection of rare mutations

Related Concept Videos

Extension of the Peters-Belson method to estimate health disparities among multiple groups using logistic regression with survey data.

Power and related statistical properties of conditional likelihood score tests for association studies in nuclear families with parental genotypes.

On the power of affected relative pair designs for linkage studies.

Robust TDT-type candidate-gene association tests.

Statistical properties of Teng and Risch's sibship type tests for detecting an association between disease and a candidate allele.

Trend tests for case-control studies of genetic markers: power, sample size and robustness.

A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity.

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes.

Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults.

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

Hologenomic interactions promote the higher-order evolvability of phenotypic complexity.

Targeted insertion of an optimized donor DNA is effective in a humanized mouse model of dominant retinitis pigmentosa.

EULAR Rheumatology Open Special Issue titled 'VSI: ATT2026': the role of clonal haematopoiesis in immunological and rheumatological diseases.

Glutaminase contributes to MYC-induced cell-autonomous autophagy and to Ras V12 -dependent non-autonomous autophagy in the Drosophila wing disc epithelium.

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The efficiency of pooling in the detection of rare mutations

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