X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (12) 12
index medicus (10) 10
genomes (6) 6
genomics (5) 5
research (5) 5
article (4) 4
gene expression (4) 4
genetic aspects (4) 4
genetics (4) 4
phenotype (4) 4
architecture (3) 3
criminal justice (3) 3
datasets as topic (3) 3
dna mutational analysis (3) 3
genetic variation (3) 3
health aspects (3) 3
infections (3) 3
mutation (3) 3
mutations (3) 3
police (3) 3
proteome - genetics (3) 3
rare diseases - genetics (3) 3
research article (3) 3
sample size (3) 3
alleles (2) 2
biochemistry (2) 2
biology (2) 2
computational biology (2) 2
criminology & penology (2) 2
data bases (2) 2
databases, genetic (2) 2
decision making (2) 2
deterrence (2) 2
discovery (2) 2
dna (2) 2
editing (2) 2
epidemiology (2) 2
exome (2) 2
exome - genetics (2) 2
exome aggregation consortium (2) 2
gene expression regulation (2) 2
genes (2) 2
genes and chromosomes (2) 2
genetic loci (2) 2
genetic variation - genetics (2) 2
genetics & heredity (2) 2
genome, viral (2) 2
guidelines (2) 2
human (2) 2
intervention (2) 2
kaposis sarcoma (2) 2
law (2) 2
medical research (2) 2
messenger rna (2) 2
multidisciplinary sciences (2) 2
national security (2) 2
open reading frames (2) 2
policing terrorism (2) 2
population genetics (2) 2
procedural justice (2) 2
proteins (2) 2
rare diseases (2) 2
reading (2) 2
recidivism (2) 2
risk (2) 2
software (2) 2
variant interpretation (2) 2
variants (2) 2
viruses (2) 2
1184 genetics, developmental biology, physiology (1) 1
1945 (1) 1
1945-1989 (1) 1
1989 (1) 1
3111 biomedicine (1) 1
3121 internal medicine (1) 1
abridged index medicus (1) 1
activate (1) 1
acute myeloid-leukemia (1) 1
aged (1) 1
aged, 80 and over (1) 1
algorithms (1) 1
alternative splicing (1) 1
amino acid substitution (1) 1
analysis (1) 1
angriffskrieg (1) 1
animals (1) 1
apoptosis (1) 1
archives & records (1) 1
armed conflict (1) 1
arrests (1) 1
articles (1) 1
ashkenazim (1) 1
association (1) 1
asxl1 (1) 1
autoimmune diseases (1) 1
behavior (1) 1
bet bromodomain inhibition (1) 1
bills (1) 1
biochemistry & molecular biology (1) 1
bioinformatics (1) 1
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature, ISSN 0028-0836, 2016, Volume 536, Issue 7616, pp. 285 - 291
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe... 
HUMAN-DISEASE | EVOLUTION | MULTIDISCIPLINARY SCIENCES | MUTATION | GUIDELINES | FRAMEWORK | SEQUENCE VARIANTS | NETWORKS | DISCOVERY | HUMAN-POPULATION HISTORY | Genetic aspects | Research | Man | Human beings | Genetic variation | Analysis | Datasets | Proteins | Disease | Genes | Principal components analysis | Genetics | Genomes | Data bases
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 01/2017, Volume 45, Issue 1, pp. D840 - D845
Worldwide, hundreds of thousands of humans have had their genomes or exomes sequenced, and access to the resulting data sets can provide valuable information... 
FUNCTIONAL PREDICTIONS | VARIANTS | DBNSFP | BIOCHEMISTRY & MOLECULAR BIOLOGY | Exome | User-Computer Interface | Computational Biology - methods | Humans | Databases, Genetic | Software | Genome-Wide Association Study - methods | Genomics - methods | Web Browser | Database Issue
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 05/2018, Volume 14, Issue 5, p. e1007329
Journal Article
Journal Article
by Cummings, Beryl B and Marshall, Jamie L and Tukiainen, Taru and Lek, Monkol and Donkervoort, Sandra and Foley, A. Reghan and Bolduc, Veronique and Waddell, Leigh B and Sandaradura, Sarah A and O'Grady, Gina L and Estrella, Elicia and Reddy, Hemakumar M and Zhao, Fengmei and Weisburd, Ben and Karczewski, Konrad J and O'Donnell-Luria, Anne H and Birnbaum, Daniel and Sarkozy, Anna and Hu, Ying and Gonorazky, Hernan and Claeys, Kristl and Joshi, Himanshu and Bournazos, Adam and Oates, Emily C and Ghaoui, Roula and Davis, Mark R and Laing, Nigel G and Topf, Ana and Kang, Peter B and Beggs, Alan H and North, Kathryn N and Straub, Volker and Dowling, James J and Muntoni, Francesco and Clarke, Nigel F and Cooper, Sandra T and Bönnemann, Carsten G and MacArthur, Daniel G and Ardlie, Kristin G and Getz, Gad and Gelfand, Ellen T and Segrè, Ayellet V and Aguet, François and Sullivan, Timothy J and Li, Xiao and Nedzel, Jared L and Trowbridge, Casandra A and Hadley, Kane and Huang, Katherine H and Noble, Michael S and Nguyen, Duyen T and Nobel, Andrew B and Wright, Fred A and Shabalin, Andrey A and Palowitch, John J and Zhou, Yi-Hui and Dermitzakis, Emmanouil T and McCarthy, Mark I and Payne, Anthony J and Lappalainen, Tuuli and Castel, Stephane and Kim-Hellmuth, Sarah and Mohammadi, Pejman and Battle, Alexis and Parsana, Princy and Mostafavi, Sara and Brown, Andrew and Ongen, Halit and Delaneau, Olivier and Panousis, Nikolaos and Howald, Cedric and Van De Bunt, Martijn and Guigo, Roderic and Monlong, Jean and Reverter, Ferran and Garrido, Diego and Munoz, Manuel and Bogu, Gireesh and Sodaei, Reza and Papasaikas, Panagiotis and Ndungu, Anne W and Montgomery, Stephen B and Li, Xin and Fresard, Laure and Davis, Joe R and Tsang, Emily K and Zappala, Zachary and Abell, Nathan S and Gloudemans, Michael J and Liu, Boxiang and Damani, Farhan N and Saha, Ashis and Kim, Yungil and Strober, Benjamin J and He, Yuan and Stephens, Matthew and Pritchard, Jonathan K and Wen, Xiaoquan and Urbut, Sarah and Cox, Nancy J and ... and Genotype-Tissue Expression Cinsort and Genotype-Tissue Expression Consortium
Science Translational Medicine, ISSN 1946-6234, 04/2017, Volume 9, Issue 386, pp. eaal5209 - eaal5209
Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic... 
MEDICINE, RESEARCH & EXPERIMENTAL | VARIANTS | RNA-SEQ | ENHANCERS ESES | GUIDELINES | MUTATIONS | TOOL | CELL BIOLOGY | Collagen Type VI - genetics | Muscular Diseases - metabolism | Humans | Collagen Type VI - metabolism | Transcriptome - genetics | Muscular Diseases - genetics | Mutation | High-Throughput Nucleotide Sequencing - methods | Genètica
Journal Article