Results 21 to 30 of about 11,305,394 (400)

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

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

Expressing the human genome [PDF]

Nature, 2001
We have searched the human genome for genes encoding new proteins that may be involved in three nuclear gene expression processes: transcription, pre-messenger RNA splicing and polyadenylation. A plethora of potential new factors are implicated by sequence in nuclear gene expression, revealing a substantial but selective increase in complexity compared
TUPLER, Rossella, G. PERINI G., M. R. GREEN   +2 more
openaire   +2 more sources

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, Krishna M. 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

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

A map of human genome variation from population-scale sequencing

Nature, 2010
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype.
G. Abecasis, D. Altshuler, A. Auton, L. Brooks, R. Durbin, R. Gibbs, M. Hurles, G. McVean   +7 more
semanticscholar   +1 more source

CoRe: a robustly benchmarked R package for identifying core-fitness genes in genome-wide pooled CRISPR-Cas9 screens

BMC Genomics, 2021
Background CRISPR-Cas9 genome-wide screens are being increasingly performed, allowing systematic explorations of cancer dependencies at unprecedented accuracy and scale.
Alessandro Vinceti, Emre Karakoc, Clare Pacini, Umberto Perron, Riccardo Roberto De Lucia, Mathew J. Garnett, Francesco Iorio   +6 more
doaj   +1 more source