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List of works by Ali Torkamani

A Whole Blood Molecular Signature for Acute Myocardial Infarction

scientific article published on 25 September 2017

A feasibility study of colorectal cancer diagnosis via circulating tumor DNA derived CNV detection.

scientific article

A genome sequencing program for novel undiagnosed diseases.

scientific article

A primer on deep learning in genomics

scientific article published on 26 November 2018

Annotating individual human genomes

scientific article

Artificial intelligence in clinical and genomic diagnostics

scientific article published on 19 November 2019

Clinical implications of human population differences in genome-wide rates of functional genotypes

scientific article

Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson's disease.

scientific article published on 20 July 2018

Corrigendum: Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

scientific article published in January 2017

Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis

scientific article published on 23 August 2016

Digital medical tools and sensors

scientific article published on January 2015

Directed remodeling of the mouse gut microbiome inhibits the development of atherosclerosis

scientific article published on 15 June 2020

Drilling for Insight: Forecasting Phenotype from Genotype

scientific article published on 13 September 2018

Efficient and sequence-independent replication of DNA containing a third base pair establishes a functional six-letter genetic alphabet

scientific article

Erratum: Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis

scientific article published on 10 October 2016

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia

scientific article

Genetic structure of community acquired methicillin-resistant Staphylococcus aureus USA300

scientific article

Genotype imputation and variability in polygenic risk score estimation

scientific article published on 23 November 2020

High-Definition Medicine

scientific article published on August 2017

High-performance web services for querying gene and variant annotation

scientific article (publication date: 6 May 2016)

Influence of donor age on induced pluripotent stem cells

scientific article

Liquid Biopsies for Cancer: Coming to a Patient near You.

scientific article published on 04 January 2017

Mechanical activation of noncoding-RNA-mediated regulation of disease-associated phenotypes in human cardiomyocytes

scientific article published on 28 January 2019

Minimum information about clinical artificial intelligence modeling: the MI-CLAIM checklist

scientific article published on 01 September 2020

Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

scientific article published on 9 November 2017

Molecular Autopsy for Sudden Unexpected Death.

scientific article

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.

scientific article published on 6 April 2017

MyGene.info and MyVariant.info: Gene and Variant Annotation Query Services

article

Pathway analysis of seven common diseases assessed by genome-wide association

scientific article published on 16 September 2008

Polygenic Risk Scores Expand to Obesity

scientific article published on 01 April 2019

Ranking of non-coding pathogenic variants and putative essential regions of the human genome

scientific article published on 20 November 2019

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases

scientific article published on 17 December 2019

Returning Results to Family Members: Professional Duties in Genomics Research in the United States

scientific article published on 01 April 2018

SG-ADVISER CNV: copy-number variant annotation and interpretation

scientific article published on 18 December 2014

Symptom-driven idiopathic disease gene identification

scientific article published on 15 January 2015

The importance of phase information for human genomics

scientific article published on 08 February 2011

The personal and clinical utility of polygenic risk scores

scientific article published on 01 September 2018

Unveiling the Role of the Most Impactful Cardiovascular Risk Locus through Haplotype Editing

scientific article published on 06 December 2018

When genomics goes digital

scientific article published on 01 June 2018

Whole-Genome Sequencing of a Healthy Aging Cohort

scientific article published on 20 April 2016

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