4.7 Review

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes

Related references

Note: Only part of the references are listed.
Article Multidisciplinary Sciences

Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity

Chase C. Suiter et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)

Review Genetics & Heredity

Genetic Modifiers and Rare Mendelian Disease

K. M. Tahsin Hassan Rahit et al.

GENES (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Genetics & Heredity

Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures

Alice B. Popejoy et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

Article Biochemistry & Molecular Biology

The role of exome sequencing in newborn screening for inborn errors of metabolism

Aashish N. Adhikari et al.

NATURE MEDICINE (2020)

Article Radiology, Nuclear Medicine & Medical Imaging

Ethics of Using and Sharing Clinical Imaging Data for Artificial Intelligence: A Proposed Framework

David B. Larson et al.

RADIOLOGY (2020)

Article Cell Biology

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Henrike O. Heyne et al.

SCIENCE TRANSLATIONAL MEDICINE (2020)

Article Biochemical Research Methods

Transfer learning enables prediction of CYP2D6 haplotype function

Gregory McInnes et al.

PLOS COMPUTATIONAL BIOLOGY (2020)

Article Multidisciplinary Sciences

Strategic vision for improving human health at The Forefront of Genomics

Eric D. Green et al.

NATURE (2020)

Article Health Care Sciences & Services

The future of digital health with federated learning

Nicola Rieke et al.

NPJ DIGITAL MEDICINE (2020)

Article Genetics & Heredity

A proposed nosology of inborn errors of metabolism

Carlos R. Ferreira et al.

GENETICS IN MEDICINE (2019)

Review Genetics & Heredity

The evolving landscape of expanded carrier screening: challenges and opportunities

Stephanie A. Kraft et al.

GENETICS IN MEDICINE (2019)

Article Genetics & Heredity

An optimized prediction framework to assess the functional impact of pharmacogenetic variants

Yitian Zhou et al.

PHARMACOGENOMICS JOURNAL (2019)

Article Genetics & Heredity

Clinical use of current polygenic risk scores may exacerbate health disparities

Alicia R. Martin et al.

NATURE GENETICS (2019)

Article Biochemistry & Molecular Biology

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

Imen Chakchouk et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2019)

Article Biochemistry & Molecular Biology

MultiPLIER: A Transfer Learning Framework for Transcriptomics Reveals Systemic Features of Rare Disease

Jaclyn N. Taroni et al.

CELL SYSTEMS (2019)

Article Biochemistry & Molecular Biology

Deep learning can predict microsatellite instability directly from histology in gastrointestinal cancer

Jakob Nikolas Kather et al.

NATURE MEDICINE (2019)

Article Clinical Neurology

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

Yilmaz Yildiz et al.

PEDIATRIC NEUROLOGY (2019)

Article Multidisciplinary Sciences

Analysis of polygenic risk score usage and performance in diverse human populations

L. Duncan et al.

NATURE COMMUNICATIONS (2019)

Article Chemistry, Medicinal

Graph Convolutional Neural Networks for Predicting Drug-Target Interactions

Wen Torng et al.

JOURNAL OF CHEMICAL INFORMATION AND MODELING (2019)

Article Multidisciplinary Sciences

Dissecting racial bias in an algorithm used to manage the health of populations

Ziad Obermeyer et al.

SCIENCE (2019)

Article Pharmacology & Pharmacy

The Evolution of PharmVar

Andrea Gaedigk et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2019)

Article Genetics & Heredity

A primer on deep learning in genomics

James Zou et al.

NATURE GENETICS (2019)

Article Biochemistry & Molecular Biology

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch et al.

NUCLEIC ACIDS RESEARCH (2019)

Review Pharmacology & Pharmacy

Privacy and ethical challenges in next-generation sequencing

Nicole Martinez-Martin et al.

EXPERT REVIEW OF PRECISION MEDICINE AND DRUG DEVELOPMENT (2019)

Review Health Care Sciences & Services

Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges

Catriona Hippman et al.

JOURNAL OF PERSONALIZED MEDICINE (2019)

Article Biochemistry & Molecular Biology

ClinVar: improving access to variant interpretations and supporting evidence

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2018)

Review Biochemistry & Molecular Biology

Pharmacogenomics and big genomic data: from lab to clinic and back again

Adam Lavertu et al.

HUMAN MOLECULAR GENETICS (2018)

Article Endocrinology & Metabolism

The functional genomics laboratory: functional validation of genetic variants

Richard J. Rodenburg

JOURNAL OF INHERITED METABOLIC DISEASE (2018)

Review Multidisciplinary Sciences

Opportunities and obstacles for deep learning in biology and medicine

Travers Ching et al.

JOURNAL OF THE ROYAL SOCIETY INTERFACE (2018)

Article Biochemical Research Methods

Using deep learning to model the hierarchical structure and function of a cell

Jianzhu Ma et al.

NATURE METHODS (2018)

Editorial Material Medicine, General & Internal

Implementing Machine Learning in Health Care - Addressing Ethical Challenges

Danton S. Char et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Article Ethics

Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies

Josephine Johnston et al.

HASTINGS CENTER REPORT (2018)

Article Health Care Sciences & Services

Mind the Gap: Putting Evidence into Practice in the Era of Learning Health Systems

Jeanne-Marie Guise et al.

JOURNAL OF GENERAL INTERNAL MEDICINE (2018)

Article Multidisciplinary Sciences

Predicting changes to INa from missense mutations in human SCN5A

Michael Clerx et al.

SCIENTIFIC REPORTS (2018)

Article Multidisciplinary Sciences

Recurrent Neural Network for Predicting Transcription Factor Binding Sites

Zhen Shen et al.

SCIENTIFIC REPORTS (2018)

Editorial Material Medicine, General & Internal

Ensuring Fairness in Machine Learning to Advance Health Equity

Alvin Rajkomar et al.

ANNALS OF INTERNAL MEDICINE (2018)

Article Medicine, General & Internal

Goal-directed therapy in patients with early acute kidney injury: a multicenter randomized controlled trial

Cristina Prata Amendola et al.

CLINICS (2018)

Article Public, Environmental & Occupational Health

Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence

Donald Waters et al.

JOURNAL OF GLOBAL HEALTH (2018)

Article Genetics & Heredity

Integrating rare genetic variants into pharmacogenetic drug response predictions

Magnus Ingelman-Sundberg et al.

HUMAN GENOMICS (2018)

Article Pharmacology & Pharmacy

The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database

Andrea Gaedigk et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2018)

Article Cardiac & Cardiovascular Systems

Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance

Bian Li et al.

CIRCULATION-CARDIOVASCULAR GENETICS (2017)

Article Genetics & Heredity

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

Alicia R. Martin et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Genetics & Heredity

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Biochemistry & Molecular Biology

Basset: learning the regulatory code of the accessible genome with deep convolutional neural networks

David R. Kelley et al.

GENOME RESEARCH (2016)

Review Biochemistry & Molecular Biology

Deep learning for computational biology

Christof Angermueller et al.

MOLECULAR SYSTEMS BIOLOGY (2016)

Editorial Material Multidisciplinary Sciences

Genomics is failing on diversity

Alice B. Popejoy et al.

NATURE (2016)

Article Genetics & Heredity

Carrier screening by next-generation sequencing: health benefits and cost effectiveness

Mohammad Azimi et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2016)

Article Genetics & Heredity

Privacy Risks from Genomic Data-Sharing Beacons

Suyash S. Shringarpure et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Biochemical Research Methods

Predicting effects of noncoding variants with deep learning-based sequence model

Jian Zhou et al.

NATURE METHODS (2015)

Review Genetics & Heredity

Machine learning applications in genetics and genomics

Maxwell W. Libbrecht et al.

NATURE REVIEWS GENETICS (2015)

Article Medicine, General & Internal

ClinGen - The Clinical Genome Resource

Heidi L. Rehm et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

Article Computer Science, Artificial Intelligence

Transfer Learning for Visual Categorization: A Survey

Ling Shao et al.

IEEE TRANSACTIONS ON NEURAL NETWORKS AND LEARNING SYSTEMS (2015)

Article Biochemical Research Methods

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

Daniel Quang et al.

BIOINFORMATICS (2015)

Article Pharmacology & Pharmacy

Clinically Actionable Genotypes Among 10,000 Patients With Preemptive Pharmacogenomic Testing

S. L. Van Driest et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2014)

Editorial Material Pharmacology & Pharmacy

Warfarin Pharmacogenetics: An Illustration of the Importance of Studies in Minority Populations

M. A. Perera et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2014)

Review Pathology

Molecular genetics and diagnosis of phenylketonuria: state of the art

Nenad Blau et al.

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2014)

Article Biochemical Research Methods

Deep mutational scanning: a new style of protein science

Douglas M. Fowler et al.

NATURE METHODS (2014)

Article Genetics & Heredity

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

Sarah C. Gruenert

ORPHANET JOURNAL OF RARE DISEASES (2014)

Editorial Material Multidisciplinary Sciences

UNKNOWN SIGNIFICANCE

Jennifer Couzin-Frankel

SCIENCE (2014)

Article Genetics & Heredity

A systematic approach to assessing the clinical significance of genetic variants

H. Duzkale et al.

CLINICAL GENETICS (2013)

Article Biochemistry & Molecular Biology

A Gene-Specific Method for Predicting Hemophilia-Causing Point Mutations

Nobuko Hamasaki-Katagiri et al.

JOURNAL OF MOLECULAR BIOLOGY (2013)

Article Medicine, General & Internal

Implementing the Learning Health System: From Concept to Action

Sarah M. Greene et al.

ANNALS OF INTERNAL MEDICINE (2012)

Article Pharmacology & Pharmacy

Clinical Pharmacogenetics Implementation Consortium Guidelines for HLA-B Genotype and Abacavir Dosing

M. A. Martin et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2012)

Editorial Material Pharmacology & Pharmacy

Pharmacogenomics Knowledge for Personalized Medicine

M. Whirl-Carrillo et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2012)

Article Genetics & Heredity

Birth prevalence of disorders detectable through newborn screening by race/ethnicity

Lisa Feuchtbaum et al.

GENETICS IN MEDICINE (2012)

Article Engineering, Electrical & Electronic

Deep Neural Networks for Acoustic Modeling in Speech Recognition

Geoffrey Hinton et al.

IEEE SIGNAL PROCESSING MAGAZINE (2012)

Article Computer Science, Artificial Intelligence

A Survey on Transfer Learning

Sinno Jialin Pan et al.

IEEE TRANSACTIONS ON KNOWLEDGE AND DATA ENGINEERING (2010)

Article Biotechnology & Applied Microbiology

PharmGKB very important pharmacogene: SLCO1B1

Connie Oshiro et al.

PHARMACOGENETICS AND GENOMICS (2010)

Article Health Care Sciences & Services

A rapid-learning health system

Lynn M. Etheredge

HEALTH AFFAIRS (2007)

Review Genetics & Heredity

Gene-environment interactions in human diseases

DJ Hunter

NATURE REVIEWS GENETICS (2005)