LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1756-0381

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes ; volume:16 ; number:1 ; day:2 ; month:2 ; year:2023 ; pages:1-10 ; date:12.2023
BioData Mining ; 16, Heft 1 (2.2.2023), 1-10, 12.2023

Creator: Alasiri, Abdulrahman
Karczewski, Konrad J.
Cole, Brian
Loza, Bao-Li
Moore, Jason H.
Laan, Sander W. van der
Asselbergs, Folkert W.
Keating, Brendan J.
Setten, Jessica van

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13040-023-00321-5

URN: urn:nbn:de:101:1-2023040721115480420427

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:47 AM CEST

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Associated

Alasiri, Abdulrahman
Karczewski, Konrad J.
Cole, Brian
Loza, Bao-Li
Moore, Jason H.
Laan, Sander W. van der
Asselbergs, Folkert W.
Keating, Brendan J.
Setten, Jessica van
SpringerLink (Online service)

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LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes

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Other Objects (12)

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

PD18 - Filaggrin loss-of-function variants are associated with clinical reactivity to foods

Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy

Ultra-Rare BRD9 Loss-of-Function Variants Limit the Antiviral Action of Interferon

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

PD18 - Filaggrin loss-of-function variants are associated with clinical reactivity to foods

Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy

Ultra-Rare BRD9 Loss-of-Function Variants Limit the Antiviral Action of Interferon

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

PD18 - Filaggrin loss-of-function variants are associated with clinical reactivity to foods

Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy

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