Results 41 to 50 of about 10,781,581 (397)

GENCODE: The reference human genome annotation for The ENCODE Project

Genome Research, 2012
The GENCODE Consortium aims to identify all gene features in the human genome using a combination of computational analysis, manual annotation, and experimental validation.
J. Harrow, A. Frankish, J. Gonzalez, Electra Tapanari, M. Diekhans, F. Kokocinski, Bronwen L. Aken, D. Barrell, A. Zadissa, S. Searle, If H. A. Barnes, A. Bignell, Veronika Boychenko, T. Hunt, M. Kay, Gaurab Mukherjee, J. Rajan, Gloria Despacio-Reyes, Gary I. Saunders, C. Steward, R. Harte, Michael F. Lin, C. Howald, Andrea Tanzer, T. Derrien, Jacqueline Chrast, Nathalie Walters, S. Balasubramanian, Baikang Pei, M. Tress, J. Rodríguez, Iakes Ezkurdia, Jeltje van Baren, M. Brent, D. Haussler, Manolis Kellis, A. Valencia, A. Reymond, M. Gerstein, R. Guigó, T. Hubbard   +40 more
semanticscholar   +1 more source

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation

Molecular Cytogenetics, 2018
Background Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features.
A. M. Mohamed, H. T. El-Bassyouni, A. M. El-Gerzawy, S. A. Hammad, N. A. Helmy, A. K. Kamel, S. I. Ismail, M. Y. Issa, O. Eid, M. S. Zaki   +9 more
doaj   +1 more source

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

Molecular Genetics & Genomic Medicine, 2021
Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion.
Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy   +20 more
doaj   +1 more source

The Structure of Haplotype Blocks in the Human Genome

Science, 2002
Haplotype-based methods offer a powerful approach to disease gene mapping, based on the association between causal mutations and the ancestral haplotypes on which they arose.
S. Gabriel, S. Schaffner, Huy L. Nguyen, Jamie M Moore, J. Roy, B. Blumenstiel, J. Higgins, M. DeFelice, Amy L Lochner, M. Faggart, S. Liu-Cordero, C. Rotimi, A. Adeyemo, R. Cooper, R. Ward, E. Lander, M. Daly, D. Altshuler   +17 more
semanticscholar   +1 more source

Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome

Respiratory Research, 2022
Background HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to idiopathic pulmonary fibrosis (IPF).
Shachar Abudi-Sinreich, Steven P. Bodine, Tadafumi Yokoyama, Nathanial J. Tolman, Michal Tyrlik, Lauren C. Testa, Chen G. Han, Heidi M. Dorward, Stephen M. Wincovitch, Yair Anikster, William A. Gahl, Resat Cinar, Bernadette R. Gochuico, May Christine V. Malicdan   +13 more
doaj   +1 more source

The Impact of Genomic Variation on Function (IGVF) Consortium [PDF]

arXiv, 2023
Our genomes influence nearly every aspect of human biology from molecular and cellular functions to phenotypes in health and disease. Human genetics studies have now associated hundreds of thousands of differences in our DNA sequence ("genomic variation") with disease risk and other phenotypes, many of which could reveal novel mechanisms of human ...
arxiv  

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   +3 more sources

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

bioRxiv, 2022
The depletion of disruptive variation caused by purifying natural selection (constraint) has been widely used to investigate protein-coding genes underlying human disorders, but attempts to assess constraint for non-protein-coding regions have proven ...
Siwei Chen, L. Francioli, J. Goodrich, Ryan L. Collins, Qingbo S. Wang, Jessica Alföldi, N. Watts, C. Vittal, L. Gauthier, T. Poterba, Michael W. Wilson, Yekaterina Tarasova, William Phu, M. Yohannes, Zan Koenig, Y. Farjoun, E. Banks, S. Donnelly, S. Gabriel, N. Gupta, S. Ferriera, C. Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentín Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen M. Tibbetts, A. O’Donnell-Luria, M. Solomonson, C. Seed, Alicia R. Martin, M. Talkowski, H. Rehm, M. Daly, G. Tiao, B. Neale, D. MacArthur, K. Karczewski   +43 more
semanticscholar   +1 more source

Substrate Nucleotide-Determined Non-Templated Addition of Adenine by Taq DNA Polymerase: Implications for PCR-Based Genotyping and Cloning

BioTechniques, 1996
The Applied Biosystems PRISMTM fluorescence-based genotyping system as well as the Invitrogen TA Cloning® vector system are influenced by the tendency of Taq DNA polymerase to add an adenine nucleotide to the 3′ end of PCR products after extension ...
V.L. Magnuson, D.S. Ally, S.J. Nylund, Z.E. Karanjawala, J.B. Rayman, J.I. Knapp, A.L. Lowe, S. Ghosh, F.S. Collins   +8 more
doaj   +1 more source

Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

Egyptian Journal of Medical Human Genetics, 2020
Background Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% of children worldwide.
Ola M. Eid, Maha M. Eid, Amany H. Abdelrahman, Rania M. A. Abdel kader, Marwa Farid, Rana Mahrous, Mona K. Mekkawy, Alaa K. Kamel, Inas Mazen, Hala T. El-Bassyouni   +9 more
doaj   +1 more source