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1. 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, pp. 122 - 122
NGS | SNP | Genome | Variant annotation | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Genetic Variation | Genomics | Humans | Computational Biology | Molecular Sequence Annotation - methods | Software | Internet | Databases, Nucleic Acid | Haplotypes | Disease | Genes | Genomes | Patients | Consortia | Interfaces | Proteins | Annotations | Mutation | Bioinformatics | Cancer | Index Medicus
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2. Full Text Rare-variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations of orphan G protein-coupled receptors
by Dershem, Ridge and Metpally, Raghu P.R and Jeffreys, Kirk and Krishnamurthy, Sarathbabu and Smelser, Diane T and Hershfinkel, Michal and Center, Regeneron Genetics and Carey, David J and Robishaw, Janet D and Breitwieser, Gerda E and Regeneron Genetics Ctr and Regeneron Genetics Center
The Journal of biological chemistry, ISSN 0021-9258, 11/2019, Volume 294, Issue 48, pp. 18109 - 18121
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Index Medicus | Molecular Bases of Disease | GPR39 | synonymous variants | orphan receptors | sequence kernel association test | genetics | bioinformatics | G protein-coupled receptor (GPCR) | genetic disease | zinc | disease association
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3. Full Text Sherloc: A comprehensive refinement of the ACMG-AMP variant classification criteria
by Nykamp, Keith and Anderson, Michael and Powers, Martin and Garcia, John and Herrera, Blanca and Ho, Yuan-Yuan and Kobayashi, Yuya and Patil, Nila and Thusberg, Janita and Westbrook, Marjorie and Topper, Scott and Invitae Clinical Genomics Grp and Invitae Clinical Genomics Group and The Invitae Clinical Genomics Group
Genetics in medicine, ISSN 1098-3600, 10/2017, Volume 19, Issue 10, pp. 1105 - 1117
clinical interpretation | variant classification | ACMG laboratory guideline | clinical genetic testing | variant interpretation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Testing - standards | Humans | Sequence Analysis, DNA - standards | Genetic Variation - genetics | High-Throughput Nucleotide Sequencing | Software | Genome, Human | Genomics - methods | Classification | Index Medicus | Original
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4. Full Text Strelka: Accurate somatic small-variant calling from sequenced tumor-normal sample pairs
by Saunders, Christopher T and Wong, Wendy S. W and Swamy, Sajani and Becq, Jennifer and Murray, Lisa J and Cheetham, R. Keira
Bioinformatics, ISSN 1367-4803, 07/2012, Volume 28, Issue 14, pp. 1811 - 1817
Statistics & Probability | Biochemistry & Molecular Biology | Physical Sciences | Computer Science, Interdisciplinary Applications | Life Sciences & Biomedicine | Technology | Biochemical Research Methods | Computer Science | Mathematics | Biotechnology & Applied Microbiology | Science & Technology | Mathematical & Computational Biology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | General aspects | Mathematics in biology. Statistical analysis. Models. Metrology. Data processing in biology (general aspects) | Exome | Genetic Variation | Computational Biology - methods | Sequence Alignment | Neoplasms - genetics | Gene Frequency | Humans | Bayes Theorem | Models, Genetic | Genome | INDEL Mutation | Index Medicus
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5. Full Text Variant review with the integrative genomics viewer
by Robinson, James T and Thorvaldsdóttir, Helga and Wenger, Aaron M and Zehir, Ahmet and Mesirov, Jill P
Cancer research (Chicago, Ill.), ISSN 0008-5472, 11/2017, Volume 77, Issue 21, pp. e31 - e34
Life Sciences & Biomedicine | Oncology | Science & Technology | Computational Biology - methods | Sequence Alignment | Neoplasms - genetics | Humans | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Software | Genomics - methods | Sequence Analysis, DNA | Reviews | Pipelines | Genomics | Data sets | Inspection | Risk reduction | Scientific visualization | Cancer | Index Medicus | New software for data analysis | Visualization | Mutation detection methods | IGV | Chromosomal translocations: genomic aspects | NGS
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6. Full Text TREM2 Variants in Alzheimer's Disease
by Guerreiro, Rita and Wojtas, Aleksandra and Bras, Jose and Carrasquillo, Minerva and Rogaeva, Ekaterina and Majounie, Elisa and Cruchaga, Carlos and Sassi, Celeste and Kauwe, John S.K and Younkin, Steven and Hazrati, Lilinaz and Collinge, John and Pocock, Jennifer and Lashley, Tammaryn and Williams, Julie and Lambert, Jean-Charles and Amouyel, Philippe and Goate, Alison and Rademakers, Rosa and Morgan, Kevin and Powell, John and St. George-Hyslop, Peter and Singleton, Andrew and Hardy, John and Alzheimer Genetic Anal Grp and EADI Consortium and GERAD Consortium and UKBE Consortium and Alzheimer Genetic Analysis Group
The New England journal of medicine, ISSN 0028-4793, 01/2013, Volume 368, Issue 2, pp. 117 - 127
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Neurology | Organic mental disorders. Neuropsychology | General aspects | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Psychopathology. Psychiatry | Biological and medical sciences | Medical sciences | Genome-Wide Association Study | Membrane Glycoproteins - metabolism | Mice, Inbred A | Humans | Risk Factors | Genotype | Genotyping Techniques | RNA, Messenger - metabolism | Alzheimer Disease - pathology | Membrane Glycoproteins - genetics | Genetic Variation | Exome - genetics | Animals | Brain - pathology | Heterozygote | Aged | Mice | Mutation | Alzheimer Disease - genetics | Receptors, Immunologic - genetics | Sequence Analysis, DNA - methods | Receptors, Immunologic - metabolism | Gene mutations | Genetic variation | Causes of | Genetic aspects | Research | Apolipoproteins | Alzheimer's disease | Health aspects | Proteins | Genetics | Genomes | Alzheimers disease | Index Medicus | Abridged Index Medicus
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7. Full Text The variant call format and VCFtools
by Danecek, Petr and Auton, Adam and Abecasis, Goncalo and Albers, Cornelis A and Banks, Eric and DePristo, Mark A and Handsaker, Robert E and Lunter, Gerton and Marth, Gabor T and Sherry, Stephen T and McVean, Gilean and Durbin, Richard and 1000 Genomes Project Anal Grp and 1000 Genomes Project Analysis Group
Bioinformatics, ISSN 1367-4803, 8/2011, Volume 27, Issue 15, pp. 2156 - 2158
Statistics & Probability | Biochemistry & Molecular Biology | Physical Sciences | Computer Science, Interdisciplinary Applications | Life Sciences & Biomedicine | Technology | Biochemical Research Methods | Computer Science | Mathematics | Biotechnology & Applied Microbiology | Science & Technology | Mathematical & Computational Biology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | General aspects | Mathematics in biology. Statistical analysis. Models. Metrology. Data processing in biology (general aspects) | Genetic Variation | Information Storage and Retrieval - methods | Humans | Alleles | Genotype | Software | Genome, Human | Genomics - methods | Index Medicus | Applications Note
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8. Full Text Variant of TREM2 Associated with the Risk of Alzheimer's Disease
by Jonsson, Thorlakur and Jonsson, Palmi V and Stefansson, Hreinn and Stefansson, Kari and Steinberg, Stacy and Jonsdottir, Ingileif and Snaedal, Jon and Bjornsson, Sigurbjorn and Huttenlocher, Johanna and Levey, Allan I and Lah, James J and Rujescu, Dan and Hampel, Harald and Giegling, Ina and Andreassen, Ole A and Engedal, Knut and Ulstein, Ingun and Djurovic, Srdjan and Ibrahim-Verbaas, Carla and Hofman, Albert and Ikram, M. Arfan and van Duijn, Cornelia M and Thorsteinsdottir, Unnur and Kong, Augustine
The New England journal of medicine, ISSN 0028-4793, 01/2013, Volume 368, Issue 2, pp. 107 - 116
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Neurology | Organic mental disorders. Neuropsychology | General aspects | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Psychopathology. Psychiatry | Biological and medical sciences | Medical sciences | Apolipoprotein E4 - genetics | Humans | Risk Factors | Cognition | Mutation, Missense | Genotyping Techniques | Sequence Analysis, DNA | Case-Control Studies | Iceland | Membrane Glycoproteins - genetics | Genetic Variation | Aged, 80 and over | Heterozygote | Polymorphism, Single Nucleotide | Alzheimer Disease - genetics | Receptors, Immunologic - genetics | Genetic variation | Causes of | Genetic aspects | Research | Apolipoproteins | Alzheimer's disease | Health aspects | Genomes | Alzheimers disease | Older people | Age | Cognitive ability | Index Medicus | Abridged Index Medicus
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