Results 31 to 40 of about 10,987,462 (390)

Functional analysis and transcriptional output of the Göttingen minipig genome [PDF]

, 2015
In the past decade the Göttingen minipig has gained increasing recognition as animal model in pharmaceutical and safety research because it recapitulates many aspects of human physiology and metabolism.
Badi, Laura, Berrera, Marco, Bishop, Richard, Certa, Ulrich, Daff, Hamina, Daubenberger, Claudia, Ebeling, Martin, Heckel, Tobias, Khan, Azinwi Phina, Kiialainen, Anna, Kratochwil, Nicole A., Kuhn, Bernd, Küng, Erich, Lekolool, Isaac, Nowaczyk, Corinne, Okoth, Edward, Pelle, Roger, Ravon, Morgane, Ringshandl, Stephan, Schmitt, Georg, Schmucki, Roland, Steiner, Guido   +21 more
core   +9 more sources

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

Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

Nature Communications, 2021
PU.1 is a master regulator of myeloid development but its role in disease-relevant neutrophils is not well known. Here, the authors look at primary neutrophils from a human population and find that genetic variants affecting binding of PU.1 are ...
Stephen Watt, Louella Vasquez, Klaudia Walter, Alice L. Mann, Kousik Kundu, Lu Chen, Ying Sims, Simone Ecker, Frances Burden, Samantha Farrow, Ben Farr, Valentina Iotchkova, Heather Elding, Daniel Mead, Manuel Tardaguila, Hannes Ponstingl, David Richardson, Avik Datta, Paul Flicek, Laura Clarke, Kate Downes, Tomi Pastinen, Peter Fraser, Mattia Frontini, Biola-Maria Javierre, Mikhail Spivakov, Nicole Soranzo   +26 more
doaj   +1 more source

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

Genetic variants associated with Hermansky-Pudlak syndrome

Platelets, 2020
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency ...
Melissa A. Merideth, Wendy J. Introne, Jennifer A. Wang, Kevin J. O’Brien, Marjan Huizing, Bernadette R. Gochuico   +5 more
doaj   +1 more source

Unusual sequence characteristics of human chromosome 19 are conserved across 11 nonhuman primates

BMC Evolutionary Biology, 2020
Background Human chromosome 19 has many unique characteristics including gene density more than double the genome-wide average and 20 large tandemly clustered gene families.
R. Alan Harris, Muthuswamy Raveendran, Kim C. Worley, Jeffrey Rogers   +3 more
doaj   +1 more source

Comparative genomic analyses reveal a lack of a substantial signature of host adaptation in Rhodococcus equi (‘Prescottella equi’) [PDF]

, 2013
Rhodococcus equi (‘Prescottella equi’) is a pathogenic actinomycete primarily infecting horses but has emerged as an opportunistic human pathogen. We have sequenced the genome of the type strain of this species, R.
Arruda, Aziz, Aziz, Clark, Darling, Giguere, Goodfellow, Grant, Jones, Jones, Jones, Kedlaya, Kämpfer, Lai, Law, Letek, Letek, Lowder, McLeod, Mohn, Pena-Moctezuma, Prescott, Prescott, Resch, Reumerman, Sangal, Sangal, Segata, Sekine, Takai, Takai, Teufel, Vazquez-Boland, Vera-Cabrera, Vernikos, Yamshchikov   +35 more
core   +1 more source

The human genome browser at UCSC.

Genome Research, 2002
As vertebrate genome sequences near completion and research refocuses to their analysis, the issue of effective genome annotation display becomes critical.
W. Kent, C. Sugnet, T. Furey, K. Roskin, Tom H. Pringle, A. Zahler, D. Haussler   +6 more
semanticscholar   +1 more source

Epigenetic Patterns in a Complete Human Genome

bioRxiv, 2021
The completion of the first telomere-to-telomere human genome, T2T-CHM13, enables exploration of the full epigenome, removing limitations previously imposed by the missing reference sequence.
Ariel Gershman, M. Sauria, P. Hook, Savannah J. Hoyt, Roham Razaghi, S. Koren, Nicolas Altemose, G. V. Caldas, Mitchell R. Vollger, Glennis A. Logsdon, A. Rhie, E. Eichler, M. Schatz, R. O’Neill, A. Phillippy, K. Miga, W. Timp   +16 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