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1. Full Text Rare loss of function variants in candidate genes and risk of colorectal cancer
by Rosenthal, Elisabeth A and Shirts, Brian H and Amendola, Laura M and Horike-Pyne, Martha and Robertson, Peggy D and Hisama, Fuki M and Bennett, Robin L and Dorschner, Michael O and Nickerson, Deborah A and Stanaway, Ian B and Nassir, Rami and Vickers, Kathy T and Li, Christopher and Grady, William M and Peters, Ulrike and Jarvik, Gail P and NHLBI GO Exome Sequencing Project
Human Genetics, ISSN 0340-6717, 10/2018, Volume 137, Issue 10, pp. 795 - 806
Although ~ 25% of colorectal cancer or polyp (CRC/P) cases show familial aggregation, current germline genetic testing identifies a causal genotype in the 16... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | BREAST-CANCER | FAMILIES | SUSCEPTIBILITY | GENETICS & HEREDITY | GERMLINE MUTATIONS | AMERICAN-COLLEGE | OVARIAN-CANCER | LYNCH SYNDROME | PREDISPOSE | ASSOCIATION | ADENOMATOUS POLYPOSIS | Colorectal Neoplasms - genetics | Humans | Middle Aged | Risk Factors | Fanconi Anemia Complementation Group Proteins - genetics | Male | Genetic Loci | Genetic Variation | Adolescent | Deoxyribonuclease (Pyrimidine Dimer) - genetics | Aged, 80 and over | Adult | Female | RNA Helicases - genetics | Aged | BRCA2 Protein - genetics | Genes | Colorectal cancer | Genetic aspects | Health aspects | Genetic screening | Risk factors | Cancer | BRCA2 protein | Colorectal carcinoma | Genotypes | genetic testing panels | polyps | BRIP1 | BRCA2 | NTHL1
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2. Full Text Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
by Do, Ron and Stitziel, Nathan O and Won, Hong-Hee and Jørgensen, Anders Berg and Duga, Stefano and Angelica Merlini, Pier and Kiezun, Adam and Farrall, Martin and Goel, Anuj and Zuk, Or and Guella, Illaria and Asselta, Rosanna and Lange, Leslie A and Peloso, Gina M and Auer, Paul L and Girelli, Domenico and Martinelli, Nicola and Farlow, Deborah N and DePristo, Mark A and Roberts, Robert and Stewart, Alexander F. R and Saleheen, Danish and Danesh, John and Epstein, Stephen E and Sivapalaratnam, Suthesh and Hovingh, G. Kees and Kastelein, John J and Samani, Nilesh J and Schunkert, Heribert and Erdmann, Jeanette and Shah, Svati H and Kraus, William E and Davies, Robert and Nikpay, Majid and Johansen, Christopher T and Wang, Jian and Hegele, Robert A and Hechter, Eliana and Marz, Winfried and Kleber, Marcus E and Huang, Jie and Johnson, Anew D and Li, Mingyao and Burke, Greg L and Gross, Myron and Liu, Yongmei and Assimes, Themistocles L and Heiss, Gerardo and Lange, Ethan M and Folsom, Aaron R and Taylor, Herman A and Olivieri, Oliviero and Hamsten, Anders and Clarke, Robert and Reilly, Dermot F and Yin, Wu and Rivas, Manuel A and Donnelly, Peter and Rossouw, Jacques E and Psaty, Bruce M and Herrington, David M and Wilson, James G and Rich, Stephen S and Bamshad, Michael J and Tracy, Russell P and Cupples, L. Aienne and Rader, Daniel J and Reilly, Muredach P and Spertus, John A and Cresci, Sharon and Hartiala, Jaana and Tang, W. H. Wilson and Hazen, Stanley L and Allayee, Hooman and Reiner, Alex P and Carlson, Christopher S and Kooperberg, Charles and Jackson, Rebecca D and Boerwinkle, Eric and Lander, Eric S and Schwartz, Stephen M and Siscovick, David S and McPherson, Ruth and Tybjaerg-Hansen, Anne and Abecasis, Goncalo R and Watkins, Hugh and Nickerson, Deborah A and Ardissino, Diego and Sunyaev, Shamil R and O'Donnell, Christopher J and Altshuler, David and Gabriel, Stacey and Kathiresan, Sekar and Gabriel, Stacey B and Altshuler, David M and Abecasis, Gonçalo R and Daly, Mark J and de Bakker, Paul I. W and Fennell, Tim and Garimella, Kiran and ... and NHLBI Exome Sequencing Project
Nature, ISSN 0028-0836, 2015, Volume 518, Issue 7537, pp. 102 - +
Myocardial infarction (MI), a leading cause of death around the world, displays a complex pattern of inheritance(1,2). When MI occurs early in life, genetic... 
HEART-DISEASE | VARIANTS | CHOLESTEROL | MULTIDISCIPLINARY SCIENCES | RECEPTOR | TRIGLYCERIDES | OF-FUNCTION MUTATIONS | HYPERCHOLESTEROLEMIA | CORONARY-ARTERY-DISEASE | GENOME-WIDE ASSOCIATION | SINGLE NUCLEOTIDE POLYMORPHISMS | Genetics, Population | Myocardial Infarction - blood | Myocardial Infarction - genetics | Receptors, LDL - genetics | Apolipoprotein A-V | Genetic Predisposition to Disease - genetics | Apolipoproteins A - genetics | National Heart, Lung, and Blood Institute (U.S.) | Age Factors | United States | Humans | Middle Aged | Male | Mutation - genetics | Case-Control Studies | Exome - genetics | Age of Onset | Alleles | Coronary Artery Disease - genetics | Triglycerides - blood | Cholesterol, LDL - blood | Female | Heterozygote | Usage | Low density lipoproteins | Exome sequencing | Physiological aspects | Genetic aspects | Research | Diagnosis | Heart attack | Risk factors | Proteins | Studies | Algorithms | Heart attacks | Genes | Cardiovascular disease | Triglycerides | Mutation | Cholesterol
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3. Full Text Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
by Lange, Leslie A and Lange, Ethan M and Lange, Christoph and Hu, Youna and Zhang, Qunyuan and Zhang, Ji and Zhang, He and Xue, Chenyi and Schmidt, Ellen M and Tang, Hua and Tang, Zheng-Zheng and Bizon, Chris and Smith, Nicholas L and Smith, Joshua D and Smith, Albert V and Turner, Emily H and Jun, Goo and Kang, Hyun Min and Peloso, Gina and Auer, Paul L and Auer, Paul and Li, Kuo-ping and Li, Mingyao and Li, Yun and Li, Bingshan and Li, Dalin and Flannick, Jason and Fuchsberger, Christian and Gaulton, Kyle and Lindgren, Cecilia and Locke, Adam and Manning, Alisa and Sim, Xueling and Rivas, Manuel A and Holmen, Oddgeir L and Gottesman, Omri and Lu, Yingchang and Ruderfer, Douglas and Stahl, Eli A and Duan, Qing and Durda, Peter and Durda, J. Peter and Jiao, Shuo and Isaacs, Aaron and Hofman, Albert and Bis, Joshua C and Bis, Joshua and Correa, Adolfo and Griswold, Michael E and Jakobsdottir, Johanna and Schreiner, Pamela and Schreiner, Pamela J and Feitosa, Mary F and Huffman, Jennifer E and Crosby, Jacy and Wassel, Chrstina L and Wassel, Christina L and Do, Ron and Franceschini, Nora and Martin, Lisa and Martin, Lisa W and Martin, Thomas R and Robinson, Jennifer G and Assimes, Themistocles L and Crosslin, David R and Rosenthal, Elisabeth A and Tsai, Michael Y and Tsai, Michael and Rieder, Mark J and Farlow, Deborah N and Folsom, Aaron R and Lumley, Thomas and Fox, Ervin R and Fox, Caroline S and Fox, P. Keolu and Fox, Ervin and Carlson, Christopher S and Peters, Ulrike and Jackson, Rebecca D and Jackson, Rebecca and van Duijn, Cornelia M and Uitterlinden, André G and Levy, Daniel and Rotter, Jerome I and Taylor, Herman A and Taylor, Kira C and Taylor, Kent and Gudnason, Vilmundur and Siscovick, David S and Fornage, Myriam and Borecki, Ingrid B and Hayward, Caroline and Rudan, Igor and Chen, Wei-Min and Chen, Y. Eugene and Chen, Donna T and Chen, Ida Y and Bottinger, Erwin P and Loos, Ruth J.F and Sætrom, Pål and ... and NHLBI Grand Opportunity Exome Sequ and NHLBI Grand Opportunity Exome Sequencing Project and Genomik, diabetes och endokrinologi and Lund University and Genomics, Diabetes and Endocrinology and Lunds universitet and EXODIAB: Excellence in Diabetes Research in Sweden
The American Journal of Human Genetics, ISSN 0002-9297, 02/2014, Volume 94, Issue 2, pp. 233 - 245
Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs)... 
OBJECTIVES | HEART-DISEASE | PLASMA | GENE | SUSCEPTIBILITY | GENETICS & HEREDITY | DENSITY-LIPOPROTEIN-CHOLESTEROL | Dyslipidemias - genetics | Genetic Code | Follow-Up Studies | Humans | Middle Aged | Male | Proprotein Convertases - genetics | Exome | Dyslipidemias - blood | Serine Endopeptidases - genetics | Adult | Female | Receptors, LDL - genetics | Genome-Wide Association Study | Gene Frequency | Genotype | Sequence Analysis, DNA | Cholesterol, LDL - genetics | Phenotype | Apolipoproteins E - blood | Apolipoproteins E - genetics | Aged | Polymorphism, Single Nucleotide | Cohort Studies | Lipase - genetics | Proprotein Convertase 9 | Genetic code | Genetic variation | Physiological aspects | Genetic research | Cholesterol, LDL | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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4. Full Text Abstracts of the HIV Research for Prevention Meeting, HIVR4P, 17-20 October, 2016, Chicago, USA
by Sullivan, Patrick and Yuan, Maoli and Coleman, John and Destefano, Joanne and Zhang, Xinsheng and Yates, Nicole and Barouch, Dan and Ackerman, Margaret and Decamp, Allan and Alter, Galit and Tomaras, Georgia and Tomaras, Georgia and Montefiori, David and Montefiori, David and Rasmussen, Beth and Morrow, Gavin and Koff, Wayne and Kashuba, Angela and Kashuba, Angela and Mascola, John and Picker, Louis and Kent, Stephen and Selhorst, Philippe and Masson, Lindi and Ngandu, Nobubelo and Rademeyer, Cecilia and Karim, Quarraisha Abdool and Kijak, Gustavo and Barouch, Dan and Rasheed, Ata Ur and Havenar-Daughton, Colin and Pham, Matthew and Kovalenkov, Yevgeniy and Gumber, Sanjeev and Johnson, Matthew and Wrammert, Jens and Villinger, Francois and Haynes, Barton and Haynes, Barton and Fox, Christopher and Reed, Steve and Vasilakos, John and Tomai, Mark and Crotty, Shane and Ahmed, Rafi and Pulendran, Bali and Fukazawa, Yoshinori and Lifson, Jeffrey and Lifson, Jeffrey and Moore, Penny and Chatora, Kumbirai and Skorochod, Elisabeth and Madidi, Ngonidzashe and Gomez, Anabel and Ncube, Getrude and Sundaram, Maaya and Kretschmer, Steve and Pauthner, Matthias and Briney, Bryan and Lee, Jeong Hyun and Saye-Francisco, Karen and Hsueh, Jessica and Ramos, Alejandra and Le, Khoa and Jones, Meaghan and Jardine, Joseph and Bastidas, Raiza and Sarkar, Anita and Liang, Chi-Hui and Wilson, Ian and Ward, Andrew and Zhu, Jiang and Poignard, Pascal and Burton, Dennis and Krebs, Shelly and Law, Wiliam and Gift, Syna and Chenine, Agnes and Rolland, Morgane and Moody, M. Anthony and Jarosinski, Marissa and Georgiev, Ivelin and Chuang, Gwo-Yu and Chuang, Gwo-Yu and Asokan, Mangaiarkarasi and Bailer, Robert T and Cale, Evan M and Louder, Mark and Kwong, Peter D and Polonis, Victoria and Tovanabutra, Sodsai and Robb, Merlin and Mascola, John R and Wibmer, Constantinos Kurt and Wibmer, Constantinos Kurt and Madzorera, Vimbai S and Doria-Rose, Nicole A and Morris, Lynn and Moore, Penny L and Anthony, Colin and ...
AIDS Research and Human Retroviruses, ISSN 0889-2229, 10/2016, Volume 32, Issue S1, pp. 1 - 409
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5. Full Text Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
by Turner, Tychele N and Hormozdiari, Fereydoun and Duyzend, Michael H and McClymont, Sarah A and Hook, Paul W and Iossifov, Ivan and Raja, Archana and Baker, Carl and Hoekzema, Kendra and Stessman, Holly A and Zody, Michael C and Nelson, Bradley J and Huddleston, John and Sandstrom, Richard and Smith, Joshua D and Hanna, David and Swanson, James M and Faustman, Elaine M and Bamshad, Michael J and Stamatoyannopoulos, John and Nickerson, Deborah A and McCallion, Andrew S and Darnell, Robert and Eichler, Evan E
The American Journal of Human Genetics, ISSN 0002-9297, 01/2016, Volume 98, Issue 1, pp. 58 - 74
We performed whole-genome sequencing (WGS) of 208 genomes from 53 families affected by simplex autism. For the majority of these families, no copy-number... 
INTELLECTUAL DISABILITY | EXOME | WHOLE-GENOME | DE-NOVO MUTATIONS | RARE | PATHWAY MUTATIONS | GENES | GENETICS & HEREDITY | SPECTRUM | DISCOVERY | COPY-NUMBER VARIATION | Autistic Disorder - genetics | DNA - genetics | Exome | Pedigree | Humans | Female | Male | Polymorphism, Single Nucleotide | Genome, Human | Autism | Epigenetic inheritance | Genetic aspects | Nucleotide sequencing | Observations | Methods | DNA sequencing
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6. Full Text The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
by Mallick, Swapan and Li, Heng and Lipson, Mark and Mathieson, Iain and Gymrek, Melissa and Racimo, Fernando and Zhao, Mengyao and Chennagiri, Niru and Nordenfelt, Susanne and Tandon, Arti and Skoglund, Pontus and Lazaridis, Iosif and Sankararaman, Sriram and Fu, Qiaomei and Rohland, Nadin and Renaud, Gabriel and Erlich, Yaniv and Willems, Thomas and Gallo, Carla and Spence, Jeffrey P and Song, Yun S and Poletti, Giovanni and Balloux, Francois and Van Driem, George and De Knijff, Peter and Romero, Irene Gallego and Jha, Aashish R and Behar, Doron M and Bravi, Claudio M and Capelli, Cristian and Hervig, Tor and Moreno-Estrada, Andres and Posukh, Olga L and Balanovska, Elena and Balanovsky, Oleg and Karachanak-Yankova, Sena and Sahakyan, Hovhannes and Toncheva, Draga and Yepiskoposyan, Levon and Tyler-Smith, Chris and Xue, Yali and Abdullah, M. Syafiq and Ruiz-Linares, Andres and Beall, Cynthia M and Di Rienzo, Anna and Jeong, Choongwon and Starikovskaya, Elena B and Metspalu, Ene and Parik, Jüri and Villems, Richard and Henn, Brenna M and Hodoglugil, Ugur and Mahley, Robert and Sajantila, Antti and Stamatoyannopoulos, George and Wee, Joseph T. S and Khusainova, Rita and Khusnutdinova, Elza and Litvinov, Sergey and Ayodo, George and Comas, David and Hammer, Michael F and Kivisild, Toomas and Klitz, William and Winkler, Cheryl A and Labuda, Damian and Bamshad, Michael and Jorde, Lynn B and Tishkoff, Sarah A and Watkins, W. Scott and Metspalu, Mait and Dryomov, Stanislav and Sukernik, Rem and Singh, Lalji and Thangaraj, Kumarasamy and Paäbo, Svante and Kelso, Janet and Patterson, Nick and Reich, David
Nature, ISSN 0028-0836, 2016, Volume 538, Issue 7624, pp. 201 - 206
Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at... 
DISPERSAL | AFRICA | MUTATION-RATE | MODERN HUMANS | MULTIDISCIPLINARY SCIENCES | SEQUENCE | NEANDERTHAL | ADMIXTURE | INFERENCE | ANCESTRY | HISTORY | Genetics, Population | History, Ancient | Datasets as Topic | Species Specificity | Genomics | Humans | Mutation Rate | Neanderthals - genetics | Continental Population Groups - genetics | Phylogeny | Sequence Analysis, DNA | Genome, Human - genetics | Human Migration - history | New Guinea | Animals | Time Factors | Genetic Variation - genetics | African Continental Ancestry Group - genetics | Australia | Oceanic Ancestry Group - genetics | Genetic research | Genomes | Research | Biological diversity | Datasets | Demography | Population | Genetic diversity | Mutation | Hominids | Genètica | Filogènia | Genoma humà | Genòmica
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