X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (28) 28
humans (23) 23
genomics (16) 16
article (14) 14
biotechnology & applied microbiology (13) 13
research (12) 12
human genome (10) 10
genetic variation (9) 9
genomes (9) 9
mutation (9) 9
genetics & heredity (8) 8
genome, human (8) 8
multidisciplinary sciences (8) 8
software (8) 8
structural variation (8) 8
algorithms (7) 7
biochemistry & molecular biology (7) 7
genome (7) 7
biochemical research methods (6) 6
biology (6) 6
mathematical & computational biology (6) 6
nucleotide sequencing (6) 6
bioinformatics (5) 5
deoxyribonucleic acid--dna (5) 5
genome, human - genetics (5) 5
genotype (5) 5
high-throughput nucleotide sequencing - methods (5) 5
methods (5) 5
physiological aspects (5) 5
polymorphism, single nucleotide - genetics (5) 5
sequence alignment (5) 5
usage (5) 5
variants (5) 5
animals (4) 4
biochemistry (4) 4
cancer (4) 4
computational biology (4) 4
copy number variation (4) 4
disease (4) 4
expression (4) 4
genes (4) 4
internet (4) 4
segmental duplications (4) 4
sequence analysis, dna (4) 4
sequence analysis, dna - methods (4) 4
studies (4) 4
accurate (3) 3
analysis (3) 3
applications notes (3) 3
binding sites (3) 3
copy number (3) 3
databases, genetic (3) 3
deletion (3) 3
evolution (3) 3
experiments (3) 3
female (3) 3
gene (3) 3
genetic aspects (3) 3
genetics (3) 3
genotype & phenotype (3) 3
human genetics (3) 3
identification and classification (3) 3
insertion (3) 3
male (3) 3
molecular biology (3) 3
paired-end (3) 3
physics (3) 3
pilot projects (3) 3
polymerase chain reaction (3) 3
polymorphism (3) 3
polymorphism, single nucleotide (3) 3
population (3) 3
pseudogenes (3) 3
research article (3) 3
sequence deletion - genetics (3) 3
systems integration (3) 3
accuracy (2) 2
alignment (2) 2
alu elements (2) 2
amino acid sequence (2) 2
base sequence (2) 2
beer (2) 2
benchmarking (2) 2
biotechnology (2) 2
caenorhabditis elegans (2) 2
caenorhabditis elegans - growth & development (2) 2
caenorhabditis elegans proteins - genetics (2) 2
cell biology (2) 2
chemistry (2) 2
chromatin (2) 2
chromosome breakpoints (2) 2
chromosomes (2) 2
compositions or test papers therefor (2) 2
computational biology - methods (2) 2
computer applications to medicine. medical informatics (2) 2
computer science applications (2) 2
computer simulation (2) 2
condition-responsive control in microbiological orenzymological processes (2) 2
data interpretation, statistical (2) 2
database (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Cell, ISSN 0092-8674, 03/2012, Volume 148, Issue 6, pp. 1293 - 1307
Journal Article
by Sudmant, Peter H and Rausch, Tobias and Gardner, Eugene J and Handsaker, Robert E and Abyzov, Alexej and Huddleston, John and Zhang, Yan and Ye, Kai and Jun, Goo and Fritz, Markus His-Yang and Konkel, Miriam K and Malhotra, Ankit and Stütz, Adrian M and Shi, Xinghua and Casale, Francesco Paolo and Chen, Jieming and Hormozdiari, Fereydoun and Dayama, Gargi and Chen, Ken and Malig, Maika and Chaisson, Mark J.P and Walter, Klaudia and Meiers, Sascha and Kashin, Seva and Garrison, Erik and Auton, Adam and Lam, Hugo Y.K and Mu, Xinmeng Jasmine and Alkan, Can and Antaki, Danny and Bae, Taejeong and Cerveira, Eliza and Chines, Peter and Chong, Zechen and Clarke, Laura and Dal, Elif and Ding, Li and Emery, Sarah and Fan, Xian and Gujral, Madhusudan and Kahveci, Fatma and Kidd, Jeffrey M and Kong, Yu and Lameijer, Eric-Wubbo and McCarthy, Shane and Flicek, Paul and Gibbs, Richard A and Marth, Gabor and Mason, Christopher E and Menelaou, Androniki and Muzny, Donna M and Nelson, Bradley J and Noor, Amina and Parrish, Nicholas F and Pendleton, Matthew and Quitadamo, Andrew and Raeder, Benjamin and Schadt, Eric E and Romanovitch, Mallory and Schlattl, Andreas and Sebra, Robert and Shabalin, Andrey A and Untergasser, Andreas and Walker, Jerilyn A and Wang, Min and Yu, Fuli and Zhang, Chengsheng and Zhang, Jing and Zheng-Bradley, Xiangqun and Zhou, Wanding and Zichner, Thomas and Sebat, Jonathan and Batzer, Mark A and McCarroll, Steven A and Mills, Ryan E and Gerstein, Mark B and Bashir, Ali and Stegle, Oliver and Devine, Scott E and Lee, Charles and Eichler, Evan E and Korbel, Jan O and Genomes Project Consortium and 1000 Genomes Project Consortium and The 1000 Genomes Project Consortium
Nature, ISSN 0028-0836, 09/2015, Volume 526, Issue 7571, pp. 75 - 81
Journal Article
by Mills, Ryan E and Walter, Klaudia and Stewart, Chip and Handsaker, Robert E and Chen, Ken and Alkan, Can and Abyzov, Alexej and Yoon, Seungtai Chris and Ye, Kai and Cheetham, R. Keira and Chinwalla, Asif and Conrad, Donald F and Fu, Yutao and Grubert, Fabian and Hajirasouliha, Iman and Hormozdiari, Fereydoun and Iakoucheva, Lilia M and Iqbal, Zamin and Kang, Shuli and Kidd, Jeffrey M and Konkel, Miriam K and Korn, Joshua and Khurana, Ekta and Kural, Deniz and Lam, Hugo Y. K and Leng, Jing and Li, Ruiqiang and Li, Yingrui and Lin, Chang-Yun and Luo, Ruibang and Mu, Xinmeng Jasmine and Nemesh, James and Peckham, Heather E and Rausch, Tobias and Scally, Aylwyn and Shi, Xinghua and Stromberg, Michael P and Sütz, Adrian M and Urban, Alexander Eckehart and Walker, Jerilyn A and Wu, Jiantao and Zhang, Yujun and Zhang, Zhengdong D and Batzer, Mark A and Ding, Li and Marth, Gabor T and McVean, Gil and Sebat, Jonathan and Snyder, Michael and Wang, Jun and Ye, Kenny and Eichler, Evan E and Gerstein, Mark B and Hurles, Matthew E and Lee, Charles and McCarroll, Steven A and Korbel, Jan O and Collins, Francis S and Altshuler, D.L and Durbin, R.M and Abecasis, G.R and Bentley, D.R and Chakravarti, A and Clark, A.G and De La Vega, F.M and Donnelly, P and Egholm, M and Flicek, P and Gabriel, S.B and Gibbs, R.A and Knoppers, B.M and Lander, E.S and Lehrach, H and Mardis, E.R and McVean, G.A and Nickerson, D.A and Peltonen, L and Schafer, A.J and Sherry, S.T and Wilson, R.K and Deiros, D and Metzker, M and Muzny, D and Reid, J and Wheeler, D and Li, J and Jian, M and Li, G and Liang, H and Tian, G and Wang, B and Wang, W and Yang, H and Zhang, X and Zheng, H and Ambrogio, L and Bloom, T and Cibulskis, K and Fennell, T.J and Jaffe, D.B and ... and 1000 Genomes Project
Nature, ISSN 0028-0836, 02/2011, Volume 470, Issue 7332, pp. 59 - 65
Journal Article
Bioinformatics, ISSN 1367-4803, 01/2015, Volume 31, Issue 16, pp. 2741 - 2744
Journal Article
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 1041 - 10
' Accurate detection of somatic mutations is still a challenge in cancer analysis. Here we present NeuSomatic, the first convolutional neural network approach... 
POINT MUTATIONS | ALGORITHMS | SIMULATION | CANCER | MULTIDISCIPLINARY SCIENCES | Mutation | Neural networks | Artificial neural networks | Cancer
Journal Article
Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, p. 59
RNA-sequencing (RNA-seq) is an essential technique for transcriptome studies, hundreds of analysis tools have been developed since it was debuted. Although... 
EXPRESSION ANALYSIS | MESSENGER-RNA | ALIGNMENT | LARGE GENOMES | QUANTIFICATION | MULTIDISCIPLINARY SCIENCES | GENE-EXPRESSION | ACCURATE IDENTIFICATION | CANCER | FUSION GENES | READS | Cell Line | Embryonic Stem Cells | Base Sequence | Humans | Transcriptome
Journal Article
BMC Genomics, ISSN 1471-2164, 01/2016, Volume 17, Issue 1, p. 64
Background: The human genome contains variants ranging in size from small single nucleotide polymorphisms (SNPs) to large structural variants (SVs).... 
ACCURATE | COPY NUMBER VARIATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | Genomic Structural Variation | Pedigree | Genomics | Humans | Molecular Sequence Annotation | Polymorphism, Single Nucleotide - genetics | Benchmarking | High-Throughput Nucleotide Sequencing | Software | Genome, Human
Journal Article