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1. Variant haemoglobins
: a guide to identification
by Bain, Barbara J
2010, ISBN 9781444329773, vi, 254
Variant Haemoglobins – A Guide to Identification is based on the premise that any single diagnostic technique offers only a very provisional identification of... 
Hemoglobinopathy | Hemoglobinopathies | genetics | Hemoglobin polymorphisms | diagnosis | Identification | Hemoglobins | Hemoglobinopathy - Genetic aspects | Hemoglobinopathies - diagnosis | Hemoglobinopathy - Diagnosis | Hemoglobin | Hemoglobins - genetics | Diagnosis | Hemoglobin polymorphisms - Identification
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2. Full Text Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant
by Rutten, Julie W and Van Eijsden, Bastian J and Duering, Marco and Jouvent, Eric and Opherk, Christian and Pantoni, Leonardo and Federico, Antonio and Dichgans, Martin and Markus, Hugh S and Chabriat, Hugues and Oberstein, Saskia A J Lesnik
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 09/2018, Volume 21, Issue 8, pp. 1895 - 1895
This Article was originally published under Nature Research's License to Publish, but has now been made available under a [CC BY 4.0] license. The PDF and HTML... 
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3. Full Text Association Between Low-Density Lipoprotein Cholesterol–Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis
by Lotta, Luca A and Sharp, Stephen J and Burgess, Stephen and Perry, John R. B and Stewart, Isobel D and Willems, Sara M and Luan, Jian’an and Ardanaz, Eva and Arriola, Larraitz and Balkau, Beverley and Boeing, Heiner and Deloukas, Panos and Forouhi, Nita G and Franks, Paul W and Grioni, Sara and Kaaks, Rudolf and Key, Timothy J and Navarro, Carmen and Nilsson, Peter M and Overvad, Kim and Palli, Domenico and Panico, Salvatore and Quirós, Jose-Ramón and Riboli, Elio and Rolandsson, Olov and Sacerdote, Carlotta and Salamanca-Fernandez, Elena and Slimani, Nadia and Spijkerman, Annemieke M. W and Tjonneland, Anne and Tumino, Rosario and van der A, Daphne L and van der Schouw, Yvonne T and McCarthy, Mark I and Barroso, Inês and O’Rahilly, Stephen and Savage, David B and Sattar, Naveed and Langenberg, Claudia and Scott, Robert A and Wareham, Nicholas J and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Allmänmedicin and Umeå universitet and Medicin
JAMA, ISSN 0098-7484, 10/2016, Volume 316, Issue 13, pp. 1383 - 1391
IMPORTANCE: Low-density lipoprotein cholesterol (LDL-C)–lowering alleles in or near NPC1L1 or HMGCR, encoding the respective molecular targets of ezetimibe and... 
Simvastatin - adverse effects | Lipoproteins - genetics | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Risk | Genetic Variation | Drug Therapy, Combination - adverse effects | Adult | Cholesterol, LDL - blood | Odds Ratio | ATP Binding Cassette Transporter, Subfamily G, Member 5 - genetics | Receptors, LDL - genetics | Genetic Association Studies | Ezetimibe - adverse effects | Membrane Proteins - genetics | Simvastatin - administration & dosage | Ezetimibe - administration & dosage | Proprotein Convertase 9 - genetics | Polymorphism, Genetic | Cholesterol, LDL - genetics | Diabetes Mellitus, Type 2 - blood | Hydroxymethylglutaryl-CoA Reductase Inhibitors - adverse effects | Coronary Artery Disease - genetics | Aged | Hydroxymethylglutaryl CoA Reductases - genetics | Cohort Studies | Type 2 diabetes | Cholesterol, LDL | Research | Therapy | Side effects | Diabetes | Low density lipoprotein | Genes | Meta-analysis | Clinical Medicine | Medical and Health Sciences | Endokrinologi och diabetes | Klinisk medicin | Medicin och hälsovetenskap | Endocrinology and Diabetes
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4. Full Text The Ensembl Variant Effect Predictor
by McLaren, William and Gil, Laurent and Hunt, Sarah E and Riat, Harpreet Singh and Ritchie, Graham R.S and Thormann, Anja and Flicek, Paul and Cunningham, Fiona
Genome Biology, ISSN 1474-7596, 06/2016, Volume 17, Issue 1
The Ensembl Variant Effect Predictor is a powerful toolset for the analysis, annotation, and prioritization of genomic variants in coding and non-coding... 
NGS | SNP | Genome | Variant annotation | DATABASE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | ANNOTATION | SEQUENCE | GENETICS & HEREDITY | CONSEQUENCES | MUTATIONS | COMPLEX TRAITS | GENCODE | SINGLE NUCLEOTIDE POLYMORPHISMS | Haplotypes | Disease | Genomics | Genes | Genomes | Patients | Consortia | Interfaces | Proteins | Annotations | Mutation | Bioinformatics | Cancer
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5. Full Text SCN5A (Na-V 1.5) Variant Functional Perturbation and Clinical Presentation Variants of a Certain Significance
by Kroncke, BM and Glazer, AM and Smith, DK and Blume, JD and Roden, DM
CIRCULATION-GENOMIC AND PRECISION MEDICINE, ISSN 2574-8300, 05/2018, Volume 11, Issue 5, pp. e002095 - e002095
BACKGROUND: Accurately predicting the impact of rare nonsynonymous variants on disease risk is an important goal in precision medicine. Variants in the cardiac... 
TYPE-3 | CARDIAC & CARDIOVASCULAR SYSTEMS | Brugada syndrome | long QT syndrome | penetrance | GUIDELINES | PHENOTYPE | STANDARDS | LONG-QT SYNDROME | POLYMORPHISM | ion channels | CARDIAC SODIUM-CHANNEL | electrophysiology | MUTATION | GENETICS & HEREDITY | Electrophysiology | Research | Perturbation (Mathematics) | Tests, problems and exercises | Ion Channels | ion channel | Membrane Transport | Genetics | SCN5A | Arrhythmias
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6. Full Text Histone variants - ancient wrap artists of the epigenome
by Henikoff, Steven and Talbert, Paul B
Nature Reviews Molecular Cell Biology, ISSN 1471-0072, 04/2010, Volume 11, Issue 4, pp. 264 - 275
Histones wrap DNA to form nucleosome particles that compact eukaryotic genomes. Variant histones have evolved crucial roles in chromosome segregation,... 
RNA-POLYMERASE-II | TRYPANOSOMA-BRUCEI | TETRAHYMENA-THERMOPHILA | EPIGENETIC REGULATION | CENTROMERIC HISTONE | GIARDIA-INTESTINALIS | INACTIVE X-CHROMOSOME | CENP-A | CONTAINING NUCLEOSOMES | H3 VARIANTS | CELL BIOLOGY | Genetic Variation | Animals | Histones - genetics | DNA Repair | Epigenesis, Genetic | Humans | Protein Processing, Post-Translational | Histones | Physiological aspects | DNA replication | DNA binding proteins | Research | DNA repair
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7. Genomic structural variants
: methods and protocols
by Feuk, Lars
2012, Methods in molecular biology, ISBN 1617795062, Volume 838., xi, 386
Genetic disorders
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8. Full Text Distinguishing Variant Pathogenicity from Genetic Diagnosis: How to Know Whether a Variant Causes a Condition
by Biesecker, Leslie G and Nussbaum, Robert L and Rehm, Heidi L
JAMA - Journal of the American Medical Association, ISSN 0098-7484, 11/2018, Volume 320, Issue 18, pp. 1929 - 1930
The article discusses how genome sequencing and exome sequencing are increasingly being used in clinical settings when a genetic basis for disease is... 
MEDICINE, GENERAL & INTERNAL | GENOME | Genetic Variation | Genetic Testing | Humans | Genetic Diseases, Inborn - genetics | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA | Whole Exome Sequencing | Usage | Genetic screening | Exome sequencing | Pathogenicity | Pathogens | Genetic variance | Patient care planning | Genomes | Diagnostic systems | Genetic testing | Medical diagnosis | Gene sequencing
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9. Variant haemoglobins
: a guide to identification
by Bain, Barbara J and Wild, Barbara J and Stephens, Adrian N and Phelan, Lorraine A
2010, ISBN 9781444329773
Hemoglobinopathy | Hemoglobinopathies | genetics | Hemoglobin polymorphisms | Identification | Diagnosis | Hemoglobins
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10. Full Text The ADRA2A rs553668 variant is associated with type 2 diabetes and five variants were associated at nominal significance levels in a population-based case–control study from Mexico City
by Totomoch-Serra, Armando and Muñoz, María de Lourdes and Burgueño, Juan and Revilla-Monsalve, María Cristina and Perez-Muñoz, Ashael and Diaz-Badillo, Álvaro
Gene, ISSN 0378-1119, 08/2018, Volume 669, pp. 28 - 34
Type 2 diabetes (T2D) is a disease with a prevalence of 9.4% in Mexicans. Its etiology is complex involving environmental and genetic factors. The aim of this... 
Type 2 diabetes | Case-control study | Mexico City | Single nucleotide variant | METAANALYSIS | INSULIN-SECRETION | SUSCEPTIBILITY | RISK | BLOOD-PRESSURE | FASTING GLUCOSE | POLYMORPHISMS | GENE | GENETICS & HEREDITY | PPAR-GAMMA | GENOME-WIDE ASSOCIATION | Genetic Variation | Receptors, Adrenergic, alpha-2 - genetics | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Female | Male | Mexico | Case-Control Studies | Insulin resistance
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11. Full Text A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3′ UTR variants
by Chen, Jian-Min and Férec, Claude and Cooper, David N
Human Genetics, ISSN 0340-6717, 10/2006, Volume 120, Issue 3, pp. 301 - 333
In an attempt both to catalogue 3′ regulatory region (3′ RR)-mediated disease and to improve our understanding of the structure and function of the 3′ RR, we... 
THYMIDYLATE-SYNTHASE GENE | 3' UNTRANSLATED REGION | BREAST-CANCER RISK | AU-RICH ELEMENTS | UPSTREAM SEQUENCE ELEMENT | GENETICS & HEREDITY | ACUTE MYOCARDIAL-INFARCTION | PROHIBITIN 3'-UNTRANSLATED REGION | E-CADHERIN GENE | SINGLE NUCLEOTIDE POLYMORPHISMS | ENDOTHELIAL GROWTH-FACTOR | Humans | Regulatory Sequences, Nucleic Acid | 3' Untranslated Regions - classification | Genetic Diseases, Inborn - genetics | 3' Untranslated Regions - genetics | Models, Molecular | Molecular Sequence Data | Open Reading Frames - genetics | Base Composition | Base Sequence | RNA, Messenger - chemistry | Polymorphism, Single Nucleotide | 3' Untranslated Regions - physiology | Nucleic Acid Conformation
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