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Genetics

Perspective: the struggle to build a massive ‘biobank’ of patient data

3 Apr, 2018 | 15:59h | UTC

The Struggle to Build a Massive ‘Biobank’ of Patient Data – The New York Times (10 articles per month are free)

 


The Struggle to Build a Massive ‘Biobank’ of Patient Data

30 Mar, 2018 | 03:11h | UTC

The Struggle to Build a Massive ‘Biobank’ of Patient Data – The New York Times (10 articles per month are free)

 


Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings

30 Mar, 2018 | 03:05h | UTC

Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial – Genetics in Medicine (free PDF for a limited period)

Commentary: Sequencing patients’ genomes might not break the health care bank, study finds – STAT News (free)

 


Viewpoint: Precision Medicine, Genome Sequencing, and Improved Population Health

22 Mar, 2018 | 23:41h | UTC

Viewpoint: Precision Medicine, Genome Sequencing, and Improved Population Health – JAMA (free for a limited period)

 


Opinion: At-home genetic testing may be convenient, but it isn’t complete

16 Mar, 2018 | 01:27h | UTC

At-home genetic testing may be convenient, but it isn’t complete – STAT (free)

 


Crispr gene editing ready for testing in humans

16 Mar, 2018 | 01:19h | UTC

Crispr gene editing ready for testing in humans – Financial Times (free for a limited period)

Source: Medical Futurist Newsletter

 


With new CRISPR inventions, its pioneers say, you ain’t seen nothin’ yet

1 Mar, 2018 | 22:04h | UTC

With new CRISPR inventions, its pioneers say, you ain’t seen nothin’ yet – STAT (free)

 


Recommendations for the detection and diagnosis of Niemann-Pick disease type C

1 Mar, 2018 | 21:56h | UTC

Recommendations for the detection and diagnosis of Niemann-Pick disease type C – Neurology Clinical Practice (free)

 


Research: Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy

22 Feb, 2018 | 22:50h | UTC

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy – Journal of the American College of Cardiology (link to abstract – $ for full-text)

Commentary: Noncompaction Cardiomyopathy Outcomes – American College of Cardiology, Latest in Cardiology (free)

 


The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

22 Feb, 2018 | 21:42h | UTC

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants – Canadian Medical Association Journal (free)

Commentaries: Cracks in the code: Why mapping your DNA may be less reliable than you think – The Globe and Mail (free) AND Genomics has entered its adolescent phase: messy and unpredictable – The Globe and Mail (free) AND University of Toronto News (free)

 


Why A Gene Therapy Pioneer Is Raising Concerns About Treatments He Championed

16 Feb, 2018 | 00:40h | UTC

Why A Gene Therapy Pioneer Is Raising Concerns About Treatments He Championed – Forbes (free)

 


Review: Congenital Insensitivity to Pain Overview

16 Feb, 2018 | 00:36h | UTC

Congenital Insensitivity to Pain Overview – GeneReviews (free)

 


The Famine Ended 70 Years Ago, but Dutch Genes Still Bear Scars

15 Feb, 2018 | 11:11h | UTC

The Famine Ended 70 Years Ago, but Dutch Genes Still Bear Scars – The New York Times (free)

 


Research: Polygenic Contribution in Individuals With Early-Onset Coronary Artery Disease

15 Feb, 2018 | 10:39h | UTC

Polygenic Contribution in Individuals With Early-Onset Coronary Artery Disease – Circulation: Genomic and Precision Medicine (free)

Commentary: Genetic Risk Score May Best FH Variant for Predicting Early-Onset CAD – Medscape (free registration required)

“Another study suggests CAD will soon be predicted not by 1 gene (like FH) but groups of genes that can be combined into risk scores” (via @drjohnm see Tweet)

 


Review: Management of Turner Syndrome

4 Feb, 2018 | 16:57h | UTC

Current best practice in the management of Turner syndrome – Therapeutic Advances in Endocrinology and Metabolism (free)

 


Research: Cloning of Macaque Monkeys

26 Jan, 2018 | 00:38h | UTC

Cloning of Macaque Monkeys by Somatic Cell Nuclear Transfer – Cell (free)

Commentaries: These monkey twins are the first primate clones made by the method that developed Dolly – Science (free) AND First monkeys cloned with technique that made Dolly the sheep – Nature (free) AND How afraid of human cloning should we be? – The Guardian (free)

 


Gene Editing – And What it Really Means to Rewrite the Code of Life

25 Jan, 2018 | 20:53h | UTC

Gene editing – and what it really means to rewrite the code of life – The Guardian (free)

Related: Correction of a pathogenic gene mutation in human embryos (free articles and commentaries) AND Simple guide to CRISPR, one of the biggest science stories of the decade – VOX (free)

 


Ethical and Safety Issues of Stem Cell-Based Therapy

23 Jan, 2018 | 14:18h | UTC

Ethical and Safety Issues of Stem Cell-Based Therapy – International Journal of Medical Science (free)

 


Supervised Machine Learning for Population Genetics

23 Jan, 2018 | 14:04h | UTC

Supervised Machine Learning for Population Genetics: A New Paradigm – Trends in Genetics (free)

 


Representing a “Revolution”: How the Popular Press has Portrayed Personalized Medicine

16 Jan, 2018 | 17:14h | UTC

Representing a “revolution”: how the popular press has portrayed personalized medicine – Genetics in Medicine (free)

 


Review of Genetic Reticulate Pigmentary Disorders

16 Jan, 2018 | 13:29h | UTC

Updated Review of Genetic Reticulate Pigmentary Disorders – The British Journal of Dermatology, via Medscape (free registration required)

 


Research: Germline BRCA Mutation and Outcome in Young-Onset Breast Cancer

16 Jan, 2018 | 12:57h | UTC

Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study – The Lancet Oncology (free)

Commentaries: Breast cancer in young women: do BRCA1 or BRCA2 mutations matter? – The Lancet Oncology (free) AND Survival for young breast cancer patients is the same whether or not they carry a BRCA mutation – eCancer News (free) AND Young-Onset Breast Cancer Survival Unaffected by BRCA Status – MedPage Today (free)

 


Review: Emerging Models of Direct-to-Consumer Genetic Testing

9 Jan, 2018 | 23:58h | UTC

Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing – Mayo Clinic Proceedings (free)

 


$850,000 per Patient for Blindness Gene Therapy

4 Jan, 2018 | 16:53h | UTC

Spark to charge $850,000 per patient for blindness gene therapy – Reuters (free) AND US drug firm offers cure for blindness – at $425,000 an eye – The Guardian (free) AND Spark prices its gene therapy as most expensive U.S. medicine — but with plans to ease cost concerns – STAT (free)

 


Review: Medical Management of Aortic Disease in Marfan Syndrome

2 Jan, 2018 | 16:01h | UTC

Medical management of aortic disease in Marfan syndrome – Annals of Cardiothoracic Surgery (free)

 


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