Author

L. Lahnstein

Genomics England

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:CRISPR screen· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Angela D. HambliniD· 2 shared Christine PatchiD· 2 shared Christopher A. OdhamsiD· 2 shared Christopher R. BoustrediD· 2 shared D. Perez-Gil· 2 shared Dalia KasperavičiūtėiD· 2 shared F. J. Lopez· 2 shared Fiona Maleady-Crowe· 2 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Angela D. HamblinORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineHuman GeneticsPeer-reviewedDec 7, 2022

Targeting de novo loss of function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

Eleanor G. Seaby, Neil Thomas, Amy Webb…·Sarah Ennis

The paper introduces DeNovoLOEUF, a method to identify diagnostic variants in genome sequencing data, achieving 96% positive predictive value and uncovering 39 missed diagnoses in the 100,000 Genomes Project.

17 citations

humanwhole-genome sequencing

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GenomicsNature CommunicationsPeer-reviewedJan 31, 2020

Human and mouse essentiality screens as a resource for disease gene discovery

Pilar Cacheiro, Violeta Muñoz‐Fuentes, Stephen A. Murray…·A. Siddiq

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

105 citationstop 2%

humanmouse

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