Leveraging the health information technology infrastructure to advance federal research priorities. Zayas-Cabán Teresa et al. Journal of the American Medical Informatics Association : JAMIA 2020 Feb

Hot Topics of the Day|PHGKB


Last Posted: Feb 27, 2020

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• Leveraging the health information technology infrastructure to advance federal research priorities.
  Zayas-Cabán Teresa et al. Journal of the American Medical Informatics Association : JAMIA 2020 Feb
• Our phones can now detect health problems from Parkinson’s to depression. Is that a good thing?
  L Parshley, VOX, February 2020
• Indicators of retention in remote digital health studies: a cross-study evaluation of 100,000 participants
  A Pratap et al, NPJ Digital Health, February 17, 2020
• CT derived radiomic score for predicting the added benefit of adjuvant chemotherapy following surgery in stage I, II resectable non-small cell lung cancer: a retrospective multicohort study for outcome prediction
  P Vaidya et al, Lancet Digital Health, February 13, 2020
• Changes in cancer detection and false-positive recall in mammography using artificial intelligence: a retrospective, multireader study
  HE Kim et al, Lancet Digital Health, February 6, 2020
• Beyond validation: getting health apps into clinical practice
  WJ Gordon et al, NPJ DIiital Medicine, February 3, 2020
• Innovation without integration
  AB Cohen et al, NPJ Digital Medicine, February 3, 2020
• Responses to addiction help-seeking from Alexa, Siri, Google Assistant, Cortana, and Bixby intelligent virtual assistants
  AL Nobles et al, NPJ Digital Medicine January 29, 2020
• The dark side of digital health
  I Kickbusch, BMJ, January 2020
• Harnessing wearable device data to improve state-level real-time surveillance of influenza-like illness in the USA: a population-based study
  JM Radin et al, Lancet Digital HEalth, January 16, 2020

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A Group-Mediated Approach to Precision Medicine-Social Identification, Prevention, and Treatment. Beauchamp Mark R et al. JAMA psychiatry 2020 Feb

Hot Topics of the Day|PHGKB


Last Posted: Feb 27, 2020

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• A Group-Mediated Approach to Precision Medicine-Social Identification, Prevention, and Treatment.
  Beauchamp Mark R et al. JAMA psychiatry 2020 Feb
• "Balancing Expectations with Actual Realities": Conversations with Clinicians and Scientists in the First Year of a High-Risk Childhood Cancer Precision Medicine Trial.
  McGill Brittany C et al. Journal of personalized medicine 2020 Feb 10(1)
• Current applications and challenges of circulating tumor DNA (ctDNA) in squamous cell carcinoma of the head and neck (SCCHN).
  Galot Rachel et al. Cancer treatment reviews 2020 Feb 85101992
• Using a single abdominal computed tomography image to differentiate five contrast-enhancement phases: A machine-learning algorithm for radiomics-based precision medicine.
  Dercle Laurent et al. European journal of radiology 2020 Jan 125108850
• Genome-Wide Polygenic Score and Cardiovascular Outcomes With Evacetrapib in Patients With High-Risk Vascular Disease: A Nested Case-Control Study.
  Emdin Connor A et al. Circulation. Genomic and precision medicine 2020 Feb (1) e002767
• Table of Pharmacogenetic Associations
  FDA, February 20, 2020
• Genetic considerations for adults with congenital heart disease.
  Ito Seiji et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Feb
• Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer.
  Nguyen-Dumont Tu et al. Familial cancer 2020 Feb
• Practice of the New Integrated Molecular Diagnostics in Gliomas: Experiences and New Findings in a Single Chinese Center.
  Hu Wan-Ming et al. Journal of Cancer 2020 11(6) 1371-1382
• Precision medicine and actionable alterations in lung cancer: A single institution experience.
  Mambetsariev Isa et al. PloS one 2020 15(2) e0228188

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Association of Leukocyte Telomere Length With Mortality Among Adult Participants in 3 Longitudinal Studies KG Arbeev et al, JAMA Network Open, February 26, 2020t

Hot Topics of the Day|PHGKB


Last Posted: Feb 27, 2020

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• Association of Leukocyte Telomere Length With Mortality Among Adult Participants in 3 Longitudinal Studies
  KG Arbeev et al, JAMA Network Open, February 26, 2020t
• Tobacco smoking and somatic mutations in human bronchial epithelium.
  Yoshida Kenichi et al. Nature 2020 Jan
• Evidence for genetic anticipation in vonHippel-Lindau syndrome.
  Aronoff Laura et al. Journal of medical genetics 2018 55(6) 395-402
• Novel genetic determinants of telomere length from a multi-ethnic analysis of 75,000 whole genome sequences in TOPMed
  MA Taub et al, BioRXIV preprints, September 4, 2019
• Translational research in pulmonary fibrosis.
  Mathai Susan K et al. Translational research : the journal of laboratory and clinical medicine 2019 2091-13
• Prediagnostic Leukocyte Telomere Length and Pancreatic Cancer Survival
  T Hamada et al, CEBP, August 2019
• What if aging weren?t inevitable, but a curable disease?
  D Adam, Tech Review, August 19, 2019
• Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle.
  Cañadas-Garre Marisa et al. Frontiers in genetics 2019 10453
• Investigation of Leukocyte Telomere Length and Genetic Variants in Chromosome 5p15.33 as Prognostic Markers in Lung Cancer.
  Kachuri Linda et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2019 Jul 28(7) 1228-1237
• Genetic Variation, Comparative Genomics, and the Diagnosis of Disease.
  Eichler Evan E et al. The New England journal of medicine 2019 Jul (1) 64-74

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Down syndrome. Antonarakis Stylianos E et al. Nature reviews. Disease primers 2020 Feb (1) 9

Hot Topics of the Day|PHGKB


Last Posted: Feb 27, 2020

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• Down syndrome.
  Antonarakis Stylianos E et al. Nature reviews. Disease primers 2020 Feb (1) 9
• Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing.
  Yotsumoto Junko et al. BMC pregnancy and childbirth 2020 Feb 20(1) 112
• Utilization of archived neonatal dried blood spots for genome-wide genotyping.
  Sok Pagna et al. PloS one 2020 15(2) e0229352
• Clinical application of a contingent screening strategy for trisomies with cell-free DNA: a pilot study.
  Sánchez-Durán María Ángeles et al. BMC pregnancy and childbirth 2019 Aug 19(1) 274
• Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.
  El Khattabi L Allach et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2019 Aug 54(2) 246-254
• Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises.
  Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan
• A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
  Chai Hongyan et al. Frontiers in genetics 2019 101162
• Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms.
  Paz-Y-Miño César et al. Molecular genetics & genomic medicine 2019 Dec e1087
• Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis.
  Zhang Wei et al. PloS one 2019 14(12) e0225281
• Translating translation in Down syndrome
  M Halliday et al, Science, November 2019

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MGI Delivers the $100 Genome at AGBT Conference GEN News, February 27, 2020

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Last Posted: Feb 27, 2020

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• MGI Delivers the $100 Genome at AGBT Conference
  GEN News, February 27, 2020
• Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy.
  Mazzarotto Francesco et al. Cardiovascular drugs and therapy 2020 Feb
• Comparison of sequencing methods and data processing pipelines for whole genome sequencing and minority single nucleotide variant (mSNV) analysis during an influenza A/H5N8 outbreak.
  Poen Marjolein J et al. PloS one 2020 (2) e0229326
• Whole-Genome Sequencing to Detect Numerous Campylobacter jejuni Outbreaks and Match Patient Isolates to Sources, Denmark, 2015-2017.
  Joensen Katrine G et al. Emerging infectious diseases 2020 Mar (3) 523-532
• Whole genome sequencing of Mycobacterium tuberculosis isolates and clinical outcomes of patients treated for multidrug-resistant tuberculosis in Tanzania.
  Katale Bugwesa Z et al. BMC genomics 2020 Feb (1) 174
• Whole-genome sequencing to explore nosocomial transmission and virulence in neonatal methicillin-susceptible Staphylococcus aureus bacteremia.
  Slingerland Bibi C G C et al. Antimicrobial resistance and infection control 2020 Feb (1) 39
• Challenges in molecular diagnosis of X-linked Intellectual disability.
  De Luca Chiara et al. British medical bulletin 2020 Feb
• A three-year whole genome sequencing perspective of Enterococcus faecium sepsis in Australia.
  Lee Terence et al. PloS one 2020 (2) e0228781
• Clostridioides difficile Whole Genome Sequencing Differentiates Relapse with the Same Strain from Reinfection with a New Strain.
  Cho Janice et al. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2020 Feb
• Disentangling outbreaks using whole-genome sequencing: concurrent multistate-outbreaks of Salmonella Kottbus in Germany, 2017.
  Enkelmann J et al. Epidemiology and infection 2020 Feb 1-17

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Microbiota as Predictor of Mortality in Allogeneic Hematopoietic-Cell Transplantation. Peled Jonathan U et al. The New England journal of medicine 2020 Feb (9) 822-834

Hot Topics of the Day|PHGKB


Last Posted: Feb 27, 2020

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• Microbiota as Predictor of Mortality in Allogeneic Hematopoietic-Cell Transplantation.
  Peled Jonathan U et al. The New England journal of medicine 2020 Feb (9) 822-834
• Microbiome goes to the ICU
  S Sengupta, Science, February 19, 2020
• A pipeline for targeted metagenomics of environmental bacteria.
  Grieb Anissa et al. Microbiome 2020 Feb (1) 21
• Changes in Microbiome Confer Multigenerational Host Resistance after Sub-toxic Pesticide Exposure.
  Wang Guan-Hong et al. Cell host & microbe 2020 Feb (2) 213-224.e7
• Separating the signal from the noise in metagenomic cell-free DNA sequencing.
  Burnham Philip et al. Microbiome 2020 Feb (1) 18
• Prenatal and Peripartum Exposure to Antibiotics and Cesarean Section Delivery Are Associated with Differences in Diversity and Composition of the Infant Meconium Microbiome.
  Wong Wendy S W et al. Microorganisms 2020 Jan (2)
• Sputum microbiome profiling in COPD: beyond singular pathogen detection.
  Ditz Benedikt et al. Thorax 2020 Jan
• Gut Microbiome Link to Increased CRC in Younger Adults?
  R Nelson, Medscape, January 27, 2020
• The gut microbiome
  Nature outlook collection, January 29, 2020
• CFTR dysregulation drives active selection of the gut microbiome.
  Meeker Stacey M et al. PLoS pathogens 2020 Jan (1) e1008251

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ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia. Reeskamp Laurens F, et al. Journal of clinical lipidology 2020 1

Hot Topics of the Day|PHGKB


Last Posted: Feb 29, 2020

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• ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.
  Reeskamp Laurens F, et al. Journal of clinical lipidology 2020 1
• FDA approves bempedoic acid/ezetimibe for LDL lowering in ASCVD, HeFH
  CM Ballantyne, Healio News, February 27, 2020
• Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.
  Trinder Mark, et al. JAMA cardiology 2020 2
• Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease
  M Trinder et al, JAMA Cardiology, February 11, 2020
• Global Call to Action on Familial Hypercholesterolemia
  YouTube Video, February 10, 2020
• Autosomal recessive hypercholesterolemia: update for 2020.
  D'Erasmo Laura et al. Current opinion in lipidology 2020 Jan
• Virtual genetic diagnosis for familial hypercholesterolemia powered by machine learning.
  Pina Ana et al. European journal of preventive cardiology 2020 Feb 2047487319898951
• Barriers to Early Diagnosis and Treatment of Familial Hypercholesterolemia: Current Perspectives on Improving Patient Care.
  Alonso Rodrigo et al. Vascular health and risk management 2020 1611-25
• Familial hypercholesterolemia: Detect, treat, and ask about family.
  Shah Nishant P et al. Cleveland Clinic journal of medicine 2020 Feb 87(2) 109-120

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