Results 21 to 30 of about 10,781,581 (397)

SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads

BMC Genomics, 2017
Background Characterization of genomic structural variation (SV) is essential to expanding the research and clinical applications of genome sequencing.
Oliver A. Hampton, Adam C. English, Mark Wang, William J. Salerno, Yue Liu, Donna M. Muzny, Yi Han, David A. Wheeler, Kim C. Worley, James R. Lupski, Richard A. Gibbs   +10 more
doaj   +1 more source

RNA-Guided Human Genome Engineering via Cas9

Science, 2013
Genome Editing Clustered regularly interspaced short palindromic repeats (CRISPR) function as part of an adaptive immune system in a range of prokaryotes: Invading phage and plasmid DNA is targeted for cleavage by complementary CRISPR RNAs (crRNAs) bound
P. Mali, Luhan Yang, K. Esvelt, John D Aach, M. Guell, James E. DiCarlo, J. Norville, G. Church   +7 more
semanticscholar   +1 more source

Pan-cancer analysis of mRNA stability for decoding tumour post-transcriptional programs

Communications Biology, 2022
The role of mRNA stability in shaping the cancer transcriptome is revealed using a statistical analysis of transcriptomic data.
Gabrielle Perron, Pouria Jandaghi, Elham Moslemi, Tamiko Nishimura, Maryam Rajaee, Rached Alkallas, Tianyuan Lu, Yasser Riazalhosseini, Hamed S. Najafabadi   +8 more
doaj   +1 more source

Genome maps across 26 human populations reveal population-specific patterns of structural variation. [PDF]

, 2019
Large structural variants (SVs) in the human genome are difficult to detect and study by conventional sequencing technologies. With long-range genome analysis platforms, such as optical mapping, one can identify large SVs (>2 kb) across the genome in ...
Cao, Han, Chan, Ting-Fung, Chow, Eugene YC, Chu, Catherine, Chung, Claire YL, Hastie, Alex R, Jin, Nana, Kwok, Pui-Yan, Lam, Ernest T, Leung, Alden KY, Levy-Sakin, Michal, Li, Le, Lin, Chin, Ma, Walfred, McCaffrey, Jennifer, Mostovoy, Yulia, Naguib, Ahmed, Pastor, Steven, Poon, Annie, Rajagopalan, Ramakrishnan, Sibert, Justin, Wang, Wei-Ping, Wong, Karen HY, Xiao, Ming, Yip, Kevin Y, Young, Eleanor   +25 more
core   +2 more sources

CADD: predicting the deleteriousness of variants throughout the human genome

Nucleic Acids Res., 2018
Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particularly highly penetrant contributors to severe Mendelian disorders.
Philipp Rentzsch, D. Witten, G. Cooper, J. Shendure, Martin Kircher   +4 more
semanticscholar   +1 more source

Segmental duplications and their variation in a complete human genome

bioRxiv, 2021
Despite their importance in disease and evolution, highly identical segmental duplications (SDs) have been among the last regions of the human reference genome (GRCh38) to be finished. Based on a complete telomere-to-telomere human genome (T2T-CHM13), we
Mitchell R. Vollger, Xavier Guitart, Philip C. Dishuck, L. Mercuri, William T. Harvey, Ariel Gershman, M. Diekhans, Arvis Sulovari, Katherine M. Munson, Alexandra M. Lewis, Kendra Hoekzema, David Porubsky, Ruiyang Li, S. Nurk, S. Koren, K. Miga, A. Phillippy, W. Timp, M. Ventura, E. Eichler   +19 more
semanticscholar   +1 more source

Sequencing the Human Genome [PDF]

Science, 1986
The title of the report by R. Myerowitz and N. Hogikyan on page 1646 of the issue of 27 June was incorrect. It should have been "Different mutations in Ashkenazi Jews and non-Jewish French Canadians with Tay-Sachs disease."
James Bruce Walsh, Jon Marks
openaire   +6 more sources

miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients

The Egyptian Heart Journal, 2022
Background Childhood dilated cardiomyopathy (CDCM) is the most common cardiomyopathy in children and it is risk factor to heart failure and sudden death.
Alaaeldin G. Fayez, Nora N. Esmaiel, Sohair M. Salem, Engy A. Ashaat, Sonia A. El-Saiedi, Mona O. El Ruby   +5 more
doaj   +1 more source

GDC 2: Compression of large collections of genomes [PDF]

Scientific Reports, Article no. 11565 (2015), 2015
The fall of prices of the high-throughput genome sequencing changes the landscape of modern genomics. A number of large scale projects aimed at sequencing many human genomes are in progress. Genome sequencing also becomes an important aid in the personalized medicine.
arxiv   +1 more source

The genomics of the human endometrium

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2012
The endometrium is a complex tissue that lines the inside of the endometrial cavity. The gene expression of the different endometrial cell types is regulated by ovarian steroids and paracrine-secreted molecules from neighbouring cells. Due to this regulation, the endometrium goes through cyclic modifications which can be divided simply into the ...
Carlos Simón, Maria Ruiz-Alonso, David Blesa   +2 more
openaire   +3 more sources