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Big data phenotyping in rare diseases: some ethical issues

Genetics in medicine, 2019-02, Vol.21 (2), p.272-274

2019

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The RNA-Editing Enzyme ADAR1 Controls Innate Immune Responses to RNA

Cell reports (Cambridge), 2014-11, Vol.9 (4), p.1482-1494

2014

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“I don’t think people are ready to trust these algorithms at face value”: trust and the use of machine learning algorithms in the diagnosis of rare disease

BMC medical ethics, 2022-11, Vol.23 (1), p.1-112, Article 112

2022

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Turning a Blind Eye: Explicit Removal of Biases and Variation from Deep Neural Network Embeddings

Computer Vision – ECCV 2018 Workshops, p.556-572

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Sequence―based characterization of structural variation in the mouse genome

Nature (London), 2011-09, Vol.477 (7364), p.326-329

2011

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Mapping cell-to-tissue graphs across human placenta histology whole slide images using deep learning with HAPPY

Nature communications, 2024-03, Vol.15 (1), p.2710-2710, Article 2710

2024

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The genomic landscape shaped by selection on transposable elements across 18 mouse strains

Genome Biology, 2012-06, Vol.13 (6), p.R45-R45

2012

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From Same Photo: Cheating on Visual Kinship Challenges

Computer Vision – ACCV 2018, p.654-668

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Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis

SSM. Qualitative research in health, 2023-06, Vol.3, p.100240-100240, Article 100240

2023

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Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

Genetics in medicine, 2019-08, Vol.21 (8), p.1719-1725

2019

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Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits

PLoS computational biology, 2020-08, Vol.16 (8), p.e1008044-e1008044

2020

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Transcriptome and fatty-acid signatures of adipocyte hypertrophy and its non-invasive MR-based characterization in human adipose tissue

EBioMedicine, 2022-05, Vol.79, p.104020-104020, Article 104020

2022

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Transcriptional derepression of the ERVWE1 locus following influenza A virus infection

Journal of virology, 2014-04, Vol.88 (8), p.4328-4337

2014

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Deep learning and single-cell phenotyping for rapid antimicrobial susceptibility detection in Escherichia coli

Communications biology, 2023-11, Vol.6 (1), p.1164-1164, Article 1164

2023

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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome

American journal of human genetics, 2021-04, Vol.108 (4), p.749-756

2021

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Evaluation of minor groove binding probe and Taqman probe PCR assays: Influence of mismatches and template complexity on quantification

Molecular and cellular probes, 2006-10, Vol.20 (5), p.311-316

2006

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Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Genetics in medicine, 2017-08, Vol.19 (8), p.900-908

2017

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The case for open science: rare diseases

JAMIA open, 2020-10, Vol.3 (3), p.472-486

2020

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Deep Facial Phenotyping with Mixup Augmentation

Medical Image Understanding and Analysis, p.133-144

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High levels of RNA-editing site conservation amongst 15 laboratory mouse strains

Genome biology, 2012-04, Vol.13 (4), p.26-26

2012

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Diagnostically relevant facial gestalt information from ordinary photos

eLife, 2014-06, Vol.3, p.e02020-e02020

2014

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Rapid Turnover of Functional Sequence in Human and Other Genomes

Annual review of genomics and human genetics, 2011-01, Vol.12 (1), p.275-299

2011

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Molecular Beacon-Based Temperature Control and Automated Analyses for Improved Resolution of Melting Temperature Analysis Using SYBR I Green Chemistry

Clinical chemistry (Baltimore, Md.), 2007-01, Vol.53 (1), p.98-103

2007

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Infection Inspection: using the power of citizen science for image-based prediction of antibiotic resistance in Escherichia coli treated with ciprofloxacin

Scientific reports, 2024-08, Vol.14 (1), p.19543-14

2024

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Big data phenotyping in rare diseases: some ethical issues

The RNA-Editing Enzyme ADAR1 Controls Innate Immune Responses to RNA

“I don’t think people are ready to trust these algorithms at face value”: trust and the use of machine learning algorithms in the diagnosis of rare disease

Turning a Blind Eye: Explicit Removal of Biases and Variation from Deep Neural Network Embeddings

Sequence―based characterization of structural variation in the mouse genome

Mapping cell-to-tissue graphs across human placenta histology whole slide images using deep learning with HAPPY

The genomic landscape shaped by selection on transposable elements across 18 mouse strains

From Same Photo: Cheating on Visual Kinship Challenges

Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits

Transcriptome and fatty-acid signatures of adipocyte hypertrophy and its non-invasive MR-based characterization in human adipose tissue

Transcriptional derepression of the ERVWE1 locus following influenza A virus infection

Deep learning and single-cell phenotyping for rapid antimicrobial susceptibility detection in Escherichia coli

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome

Evaluation of minor groove binding probe and Taqman probe PCR assays: Influence of mismatches and template complexity on quantification

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

The case for open science: rare diseases

Deep Facial Phenotyping with Mixup Augmentation

Mouse genomic variation and its effect on phenotypes and gene regulation

High levels of RNA-editing site conservation amongst 15 laboratory mouse strains

Diagnostically relevant facial gestalt information from ordinary photos

Rapid Turnover of Functional Sequence in Human and Other Genomes

Molecular Beacon-Based Temperature Control and Automated Analyses for Improved Resolution of Melting Temperature Analysis Using SYBR I Green Chemistry

Infection Inspection: using the power of citizen science for image-based prediction of antibiotic resistance in Escherichia coli treated with ciprofloxacin

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