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1. Full Text Practical approaches for whole-genome sequence analysis of heart- and blood-related traits
by Morrison, Alanna C and Huang, Zhuoyi and Yu, Bing and Metcalf, Ginger and Liu, Xiaoming and Ballantyne, Christie and Coresh, Josef and Yu, Fuli and Muzny, Donna and Feofanova, Elena and Rustagi, Navin and Gibbs, Richard and Boerwinkle, Eric
American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, p. 205
Quantitative trait loci | Nucleotide sequencing | Observations | Methods | DNA sequencing
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2. Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits
by Alanna C Morrison and Zhuoyi Huang and Bing Yu and Ginger Metcalf and Xiaoming Liu and Christie Ballantyne and Josef Coresh and Fuli Yu and Donna Muzny and Elena Feofanova and Navin Rustagi and Richard Gibbs and Eric Boerwinkle
American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, p. 205
  Whole-genome sequencing (WGS) allows for a comprehensive view of the sequence of the human genome. We present and apply integrated methodologic steps for... 
Genotype & phenotype | Genomics | Neutrophils | African Americans | Genomes | Genetic testing
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3. Full Text Somatic mutations affect key pathways in lung adenocarcinoma
by Jhangiani, Shalini N and Sabo, Aniko and Mathew, Tittu and Ding, Li and Broderick, Stephen and Hanna, Megan and Zhao, Xiaojun and Zhang, Qunyuan and Tang, Yuzhu and Weinstock, George M and Hawes, Alicia C and Milosavljevic, Aleksandar and Scherer, Steven E and Ladanyi, Marc and Hall, Otis and Haipek, Carrie and Tonon, Giovanni and Crosby, Seth D and Yoshizawa, Akihiko and Koboldt, Daniel C and Lander, Eric S and Baldwin, Jennifer and Yao, Jiqiang and Fulton, Lucinda and Abbott, Rachel and Metcalf, Ginger A and Meyer, Rick and Sawyer, Christopher S and Shen, Hua and Zhu, Yiming and Dunford-Shore, Brian H and Winckler, Wendy and Dutt, Amit and Muzny, Donna M and Fewell, Ginger and Mardis, Elaine R and Fulton, Robert S and Meyerson, Matthew and Pohl, Craig and Miner, Tracie L and Gabriel, Stacey B and Larson, David E and Clerc, Kerstin and Schmidt, Heather and Province, Michael A and Thomas, Roman K and Getz, Gad and Beer, David G and Sander, Sacha and Travis, William D and Osborne, John R and Robinson, Jody and Orringer, Mark B and Ng, Brian and Chen, Ken and Kraja, Aldi and Ren, Yanru and Roth, Jack A and Sougnez, Carrie and McLellan, Michael D and Lawrence, Michael S and Wistuba, Ignacio I and Good, Peter J and Wheeler, David A and Morgan, Margaret B and Gonzalez-Garay, Manuel L and Zody, Michael C and Lin, Ling and Shi, Xiaoqi and Varmus, Harold E and Ziaugra, Liuda and Wilson, Richard K and Pao, William and Cibulskis, Kristian and Johnson, Bruce E and Weir, Barbara A and Fennell, Tim and Lewis, Lora R and Dooling, David J and Spitz, Margaret R and Chang, Andrew C and Vickery, Tammi and Gibbs, Richard A and Chirieac, Lucian R and Giordano, Thomas and Watson, Mark A and Onofrio, Robert C and Ozenberger, Bradley and Greulich, Heidi and Wendl, Michael C and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för medicinsk biokemi och mikrobiologi and Uppsala universitet
Nature, ISSN 0028-0836, 10/2008, Volume 455, Issue 7216, pp. 1069 - 1075
Determining the genetic basis of cancer requires comprehensive analyses of large collections of histopathologically well- classified primary tumours. Here we... 
MENDELIAN-INHERITANCE | GEFITINIB | HUMAN BREAST | COLORECTAL CANCERS | MULTIDISCIPLINARY SCIENCES | KRAS MUTATION | TOBACCO-SMOKE | NEVER SMOKERS | EGFR MUTATIONS | RECEPTOR GENE | HOMOZYGOUS DELETIONS | Lung Neoplasms - genetics | Proto-Oncogenes - genetics | Humans | Gene Expression Regulation, Neoplastic | Female | Male | Gene Dosage | Mutation - genetics | Genes, Tumor Suppressor | Adenocarcinoma, Bronchiolo-Alveolar - genetics | Adenocarcinoma | Care and treatment | Prognosis | Gene mutations | Lung cancer | Physiological aspects | Genetic aspects | Research | Nucleotide sequencing | Diagnosis | Human subjects | Genetics | Mutation | Kinases | Methods | Data bases | Tumors | Index Medicus | Medical and Health Sciences | MEDICINE | Medicin och hälsovetenskap | MEDICIN
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4. Full Text Whole-exome sequencing identifies loci associated with blood cell traits and reveals a role for alternative CFI1B splice variants in human hematopoiesis
by Polfus, Linda M and Khajuria, Rajiv K and Schick, Ursula M and Pankratz, Nathan and Pazoki, Raha and Brody, Jennifer A and Chen, Ming-Huei and Auer, Paul L and Floyd, James S and Huang, Jie and Lange, Leslie and van Rooij, Frank J.A and Gibbs, Richard A and Metcalf, Ginger and Muzny, Donna and Veeraraghavan, Narayanan and Walter, Klaudia and Chen, Lu and Yanek, Lisa
American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, p. 481
Circulating blood cell counts and indices are important indicators of hematopoietic function and a number of clinical parameters, such as blood oxygen-carrying... 
Quantitative trait loci | Hematopoiesis | Genetic variation | Blood cells | Genetic aspects | Nucleotide sequencing | Health aspects | Methods | DNA sequencing
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5. Full Text Temporal development of the gut microbiome in early childhood from the TEDDY study
by Stewart, Christopher J and Ajami, Nadim J and O’Brien, Jacqueline L and Hutchinson, Diane S and Smith, Daniel P and Wong, Matthew C and Ross, Matthew C and Lloyd, Richard E and Doddapaneni, HarshaVardhan and Metcalf, Ginger A and Muzny, Donna and Gibbs, Richard A and Vatanen, Tommi and Huttenhower, Curtis and Xavier, Ramnik J and Rewers, Marian and Hagopian, William and Toppari, Jorma and Ziegler, Anette-G and She, Jin-Xiong and Akolkar, Beena and Lernmark, Ake and Hyoty, Heikki and Vehik, Kendra and Krischer, Jeffrey P and Petrosino, Joseph F and Lund University and Diabetes och celiaki and Diabetes and Celiac Unit and Lunds universitet and EXODIAB: Excellence in Diabetes Research in Sweden
Nature, ISSN 0028-0836, 10/2018, Volume 562, Issue 7728, pp. 583 - 588
The development of the microbiome from infancy to childhood is dependent on a range of factors, with microbial-immune crosstalk during this time thought to be... 
INTESTINAL MICROBIOTA | KYOTO ENCYCLOPEDIA | MULTIDISCIPLINARY SCIENCES | ENVIRONMENTAL DETERMINANTS | DISEASE | RISK | QUALITY-CONTROL | INFANT | ESTABLISHMENT | BREAST-MILK | EXPOSURE | Medical research | Microbiota (Symbiotic organisms) | Environmental aspects | Medicine, Experimental | Development and progression | Research | Diabetes | Children | Health aspects | rRNA 16S | Breastfeeding & lactation | Taxonomy | Crosstalk | Microbiomes | Families & family life | Infants | Diabetes mellitus (insulin dependent) | Birth | Phase transitions | Gene sequencing | Microorganisms | Microbiota | Age | Geographical distribution | Maturation | Diabetes mellitus | Environmental factors | Breast feeding | Metabolism | Multiculturalism & pluralism | Asthma | Babies | Pets | Antibiotics | Autoimmune diseases | Breast milk | Structure-function relationships | Basic Medicine | Medical and Health Sciences | Microbiology in the medical area | Mikrobiologi inom det medicinska området | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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6. Full Text The gut mycobiome of the Human Microbiome Project healthy cohort
by Nash, Andrea K and Auchtung, Thomas A and Wong, Matthew C and Smith, Daniel P and Gesell, Jonathan R and Ross, Matthew C and Stewart, Christopher J and Metcalf, Ginger A and Muzny, Donna M and Gibbs, Richard A and Ajami, Nadim J and Petrosino, Joseph F
Microbiome, ISSN 2049-2618, 11/2017, Volume 5, Issue 1, pp. 153 - 13
Background: Most studies describing the human gut microbiome in healthy and diseased states have emphasized the bacterial component, but the fungal microbiome... 
Fungi | Metagenomics | Microbiota | There was a high degree o Spacer | ITS2 | Fungal microbiome | Fecal microbiome | HMP | Microbiome | BLASTOCYSTIS | POPULATION | MICROBIOLOGY | COLONIZATION | BACTERIAL | IDENTIFICATION | ALIGNMENT | FUNGAL | DISEASE | DIVERSITY | HUMAN GASTROINTESTINAL-TRACT | Usage | Research | Nucleotide sequencing | Microbiota (Symbiotic organisms) | Analysis | DNA sequencing | Studies | Disease | Taxonomy | Spacer | Bacteria | Infections | Bioinformatics | rRNA 18S | Volunteers | Genera
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7. Full Text Structure and function of the healthy pre-adolescent pediatric gut microbiome
by Hollister, Emily B and Riehle, Kevin and Luna, Ruth Ann and Weidler, Erica M and Rubio-Gonzales, Michelle and Mistretta, Toni-Ann and Raza, Sabeen and Doddapaneni, Harsha V and Metcalf, Ginger A and Muzny, Donna M and Gibbs, Richard A and Petrosino, Joseph F and Shulman, Robert J and Versalovic, James
Microbiome, ISSN 2049-2618, 08/2015, Volume 3, Issue 1, p. 36
Background: The gut microbiome influences myriad host functions, including nutrient acquisition, immune modulation, brain development, and behavior. Although... 
16S rRNA | WGS | BACTERIA | SEQUENCES | MARKERS | ADULTS | MICROBIOLOGY | CHILDREN | Healthy gut microbiome | DE-BRUIJN GRAPHS | OBESITY | DISEASE | Pediatric | BRAIN | AGE | Age Factors | Humans | Gastrointestinal Microbiome | Male | Biodiversity | Healthy Volunteers | DNA Barcoding, Taxonomic | RNA, Ribosomal, 16S - genetics | Adult | Female | Child | Metagenome | Cluster Analysis | Pediatrics | Microbiota (Symbiotic organisms) | RNA | Medical care | Shotguns | Comparative analysis | Quality management
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8. Full Text Sequence-based analysis of lipid-related metabolites in a multiethnic study
by Feofanova, Elena V and Yu, Bing and Metcalf, Ginger A and Liu, Xiaoming and Muzny, Donna and Below, Jennifer E and Wagenknecht, Lynne E and Gibbs, Richard A and Morrison, Alanna C and Boerwinkle, Eric
Genetics, ISSN 0016-6731, 06/2018, Volume 209, Issue 2, pp. 607 - 616
Small molecule lipid-related metabolites are important components of fatty acid and steroid metabolism-two important contributors to human health. This study... 
Metabolome | Lipids | Whole genome sequencing | Rare variants | European Continental Ancestry Group - genetics | Humans | Middle Aged | African Americans - genetics | Female | Lipid Metabolism - genetics | Male | Polymorphism, Single Nucleotide | Quantitative Trait Loci | Enzymes | Nucleotide sequence | Genes | African Americans | Mass spectroscopy | Genomes | Metabolism | Gene expression | Minority & ethnic groups | Fatty acids | Loci | Chromatography | Molecular chains | Quantitative trait loci | Studies | Genetic variance | Population (statistical) | Sterols | Metabolites | Gene frequency | Atherosclerosis | Scientific imaging | rare variants | whole genome sequencing | lipids | Investigations | metabolome
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9. Full Text Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
by Wessel, Jennifer and Chu, Auey Y and Willems, Sara and Wang, Shuai and Yaghootkar, Hanieh and Brody, Jennifer and Dauriz, Marco and Hivert, Marie-France and Raghavan, Sridharan and Lipovich, Leonard and Hidalgo, Bertha and Fox, Keolu and Huffman, Jennifer and An, Ping and Lu, Yingchang and Rasmussen-Torvik, Laura and Grarup, Niels and Ehm, Margaret G and L. Li and Balidge, Abigail S and Stancáková, Alena and Abrol, Ravinder and Besse, Céline and Boland, Anne and Bork-Jensen, Jette and Fornage, Myriam and Freitag, Christine and Garcia, Melissa and Guo, Xiuqing and Hara, Kazuo and Isaacs, Aaron and Jakobsdottir, Margret and Lange, Leslie and Layton, Jill C and Li, Man and Zhao, Jing Hua and Meidtner, Karina and Morrison, Alanna and Nalls, Michael and Peters, Marjolein and Sabater-Lleal, Maria and Schurmann, Claudia and Silveira, Angela and Smith, Davey and Southam, Lorraine and Stoiber, Marcus H and Strawbridge, Rona and Taylor, Kent and Varga, Tibor V and Allin, Kristine H and Amin, Najaf and Aponte, Jennifer L and Aung, Tin and Barbieri, Caterina and Bihlmeyer, Nathan A and Boehnke, Michael and Bombieri, Cristina and Bowden, Donald and Burns, Sean M and Chen, Yuning and Chen, Yii-Deri and Cheng, Ching-Yu and Correa, D.D and Czajkowski, Jacek and Dehghan, Abbas and Ehret, Georg and Eiriksdottir, Gudny and Escher, Stefan A and Farmaki, Aliki-Eleni and Frånberg, Mattias and Gambaro, Giovanni and Giulianini, Franco and Goddard, William A and Goel, Anuj and Gottesman, Rebecca and Grove, Megan and Gustafsson, Stefan and Hai, Yang and Hallmans, Göran and Heo, Jiyoung and Hoffmann, Per and Ikram, Kamran and Jensen, Richard and Jørgensen, Marit and Jorgensen, Torben and Karaleftheri, Maria and Khor, C.C and Kirkpatrick, Anea and Kraja, Aldi and Kuusisto, Johanna and Lange, Ethan and Lee, I.T and Lee, Wen-Jane and Leong, Aaron and Liao, Jie and Liu, Chunyu and Liu, YongMei and Lindgren, Cecilia and Linneberg, Allan and Malerba, Giovanni and ... and The EPIC-InterAct Consortium and EPIC-InterAct Consortium and Numerisk analys och datalogi (NADA) and Naturvetenskapliga fakulteten and Stockholms universitet and Science for Life Laboratory (SciLifeLab)
Nature Communications, ISSN 2041-1723, 01/2015, Volume 6, Issue 1, p. 5897
Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants... 
TRIGLYCERIDE LEVELS | GLUCAGON-LIKE PEPTIDE-1 | INSULIN-RESISTANCE | CODING VARIATION | MULTIDISCIPLINARY SCIENCES | GERMLINE MUTATIONS | GLYCEMIC TRAITS | PLASMA-GLUCOSE | RECEPTOR GENE | SEQUENCING DATA | GENOME-WIDE ASSOCIATION | Glucose-6-Phosphatase - genetics | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Oligonucleotide Array Sequence Analysis | Diabetes Mellitus, Type 2 - genetics | Humans | Mutation Rate | Genetic Loci | Insulin - blood | Genetic Variation | Glucagon-Like Peptide-1 Receptor - genetics | Diabetes Mellitus, Type 2 - blood | Exome - genetics | Fasting - blood | Polymorphism, Single Nucleotide - genetics | African Continental Ancestry Group - genetics | Blood Glucose - metabolism | Biological Sciences | Medical Biotechnology | Naturvetenskap | Medical and Health Sciences | Medicin och hälsovetenskap | Biologiska vetenskaper | Medicinsk bioteknologi | Natural Sciences
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10. Full Text Whole genome sequence analysis of serum amino acid levels
by Yu, Bing and de Vries, Paul S and Metcalf, Ginger A and Wang, Zhe and Feofanova, Elena V and Liu, Xiaoming and Muzny, Donna Marie and Wagenknecht, Lynne E and Gibbs, Richard A and Morrison, Alanna C and Boerwinkle, Eric
Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, p. 237
Background: Blood levels of amino acids are important biomarkers of disease and are influenced by synthesis, protein degradation, and gene-environment... 
Multi-ethnic | Metabolomics | Amino acids | Whole genome sequence | Rare variants | CHOLESTEROL | GENETIC-VARIANTS | METABOLOME | ATLAS | DISEASES | PATHWAY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | WIDE ASSOCIATION | Amino Acids - blood | Genome-Wide Association Study | Exons | Humans | Middle Aged | Regulatory Sequences, Nucleic Acid | Male | Nucleotide Motifs | Biomarkers | Adult | Female | Aged | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Genome, Human | Population Surveillance | Biodegradation | Inborn errors of metabolism | Disease | Nucleotide sequence | African Americans | Amino acid sequence | Protein biosynthesis | Genomes | Regulatory sequences | Metabolism | Risk factors | Blood levels | Serum levels | Studies | Annotations | Gene frequency | Alleles | Asparagine | Gene loci | Diabetes
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