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11-20 trong số 116 kết quả
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Tác giả: Shloka Negi, Sarah L Stenton, Elizabeth Carbonell, Christina Austin-Tse, Gabrielle Lemire, Jillian Serrano, Brian Mangilog, Grace VanNoy, Mikhail Kolmogorov, Eric Vilain, Anne O'Donnell-Luria, Emmanuèle Délot, Seth I Berger, Karen H Miga, Jean Monlong, Benedict Paten, Paolo Canigiula, Brandy McNulty, Ivo Violich, Joshua Gardner, Todd Hillaker, Sara M O'Rourke, Melanie C O'Leary
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  629.8317
 
Prenatal gene editing for neurodevelopmental diseases: Ethical considerations
Tác giả: Rami M Major, Eric T Juengst
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  780.149
 
Gene and phenome-based analysis of the shared genetic architecture of eye diseases
Tác giả: Alexandra Scalici, Tyne W Miller-Fleming, Megan M Shuey, James T Baker, Michael Betti, Jibril Hirbo, Ela W Knapik, Nancy J Cox
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  616.35
 
Population history and admixture of the Fulani people from the Sahel
Tác giả: Cesar A Fortes-Lima, Mame Y Diallo, Václav Janoušek, Viktor Černý, Carina M Schlebusch
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  127
 
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans
Tác giả: Emmanuelle Szenker-Ravi, Tim Ott, Nabila Djaziri, Naif A M Almontashiri, Malak Ali Alghamdi, Essa Alharby, Majed Dasouki, Lindsay Romo, Wen-Hann Tan, Sateesh Maddirevula, Fowzan S Alkuraya, Jessica L Giordano, Amirah Yusof, Anna Alkelai, Ronald J Wapner, Karen Stals, Majid Alfadhel, Abdulrahman Faiz Alswaid, Susanne Bogusch, Anna Schafer-Kosulya, Sebastian Vogel, Philipp Vick, Axel Schweickert, Maya Chopra, Matthew Wakeling, Anne Moreau de Bellaing, Aisha M Alshamsi, Damien Sanlaville, Hamdi Mbarek, Chadi Saad, Sian Ellard, Frank Eisenhaber, Kornelia Tripolszki, Christian Beetz, Muznah Khatoo, Peter Bauer, Achim Gossler, Birgit Eisenhaber, Martin Blum, Patrice Bouvagnet, Aida Bertoli-Avella, Jeanne Amiel, Christopher T Gordon, Bruno Reversade, Beatrice Pak, Wei Xuan Goh, Anja Beckers, Angela F Brady, Lisa J Ewans
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  808.0428
 
Characterizing features affecting local ancestry inference performance in admixed populations
Tác giả: Jessica Honorato-Mauer, Nirav N Shah, Adam X Maihofer, Clement C Zai, Sintia Belangero, Caroline M Nievergelt, Marcos Santoro, Elizabeth G Atkinson
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  770.11
 
Multivariate proteome-wide association study to identify causal proteins for Alzheimer disease
Tác giả: Lei Fang, Haoran Xue, Zhaotong Lin, Wei Pan
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  616.831
 
Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Res...
Tác giả: Alice B Popejoy, Deborah I Ritter, Erin M Ramos, Heidi L Rehm, Erin R Riggs, Matthew W Wright, Michael Yudell, Sharon E Plon, Joannella Morales, Danielle Azzariti, Jonathan S Berg, Joanna E Bulkley, Mildred Cho, Claudia Gonzaga-Jauregui, Teri E Klein, Daphne O Martschenko, Akinyemi Oni-Orisan
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  346.004
 
HiFi long-read genomes for difficult-to-detect, clinically relevant variants
Tác giả: Wolfram Höps, Marjan M Weiss, Xiao Chen, Arthur van den Wijngaard, Michael A Eberle, Helger G Yntema, Alexander Hoischen, Christian Gilissen, Lisenka E L M Vissers, Ronny Derks, Jordi Corominas Galbany, Amber den Ouden, Simone van den Heuvel, Raoul Timmermans, Jos Smits, Tom Mokveld, Egor Dolzhenko
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  709.012
 
No evidence for sex-differential transcriptomes driving genome-wide sex-differential natural selection
Tác giả: Matthew J Ming, Changde Cheng, Mark Kirkpatrick, Arbel Harpak
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  649.65
 

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