Searching journal content for articles similar to West et al. 16 (5): 559.

Displaying results 1-10 of 18

For checked items

view abstracts
download to citation manager

Select this article
Review: Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
- Terence Gall-Duncan,
- Nozomu Sato,
- Ryan K.C. Yuen,
- and Christopher E. Pearson
Genome Res. January 2022 32: 1-27; Published in Advance December 29, 2021, doi:10.1101/gr.269530.120
...Terence Gall-Duncan1,2,3, Nozomu Sato1,3, Ryan K.C. Yuen1,2 and Christopher E. Pearson1,2 1Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada; 2Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada ↵3...
Select this article
Perspective: Notable challenges posed by long-read sequencing for the study of transcriptional diversity and genome annotation
- Carolina Monzó,
- Adam Frankish,
- and Ana Conesa
Genome Res. April 2025 35: 583-592; Published in Advance March 3, 2025, doi:10.1101/gr.279865.124
...the comprehensive description of this variety with the need to maintain practical and useful reference transcriptomes (Fig. 3A). Effective strategies must be developed to incorporate this complexity without overwhelming the annotation process.View larger version: In this window In a new window Figure 3. Genome...
OPEN ACCESS ARTICLE
Select this article
Perspective: Human genomic disease variants: A neutral evolutionary explanation
- Joel T. Dudley,
- Yuseob Kim,
- Li Liu,
- Glenn J. Markov,
- Kristyn Gerold,
- Rong Chen,
- Atul J. Butte,
- and Sudhir Kumar
Genome Res. August 2012 22: 1383-1394; Published in Advance June 4, 2012, doi:10.1101/gr.133702.111
...Harbor Laboratory Press; ISSN 1088-9051/12; www..org Genome Research 1383 www..org Neutral theory for personal, population, and species differences Under the NTME, the primary forces that give rise to andmaintain variation within populations are mutation, recombination, and random genetic drift (for...
Select this article
Research: A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
- Haloom Rafehi,
- Liam G. Fearnley,
- Justin Read,
- Penny Snell,
- Kayli C. Davies,
- Liam Scott,
- Greta Gillies,
- Genevieve C. Thompson,
- Tess A. Field,
- Aleena Eldo,
- Simon Bodek,
- Ernest Butler,
- Luke Chen,
- John Drago,
- Himanshu Goel,
- Anna Hackett,
- G. Michael Halmagyi,
- Andrew Hannaford,
- Katya Kotschet,
- Kishore R. Kumar,
- Smitha Kumble,
- Matthew Lee-Archer,
- Abhishek Malhotra,
- Mark Paine,
- Michael Poon,
- Kate Pope,
- Katrina Reardon,
- Steven Ring,
- Anne Ronan,
- Matthew Silsby,
- Renee Smyth,
- Chloe Stutterd,
- Mathew Wallis,
- John Waterston,
- Thomas Wellings,
- Kirsty West,
- Christine Wools,
- Kathy H.C. Wu,
- David J. Szmulewicz,
- Martin B. Delatycki,
- Melanie Bahlo,
- and Paul J. Lockhart
Genome Res. April 2025 35: 769-785; Published in Advance February 27, 2025, doi:10.1101/gr.279634.124
..., Victoria 3065, Australia; 19Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, New South Wales 2139, Australia; 20Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales 2050, Australia; 21Genomics and Inherited Disease...
Select this article
Resource: An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes
- Chong Li,
- Marc Jan Bonder,
- Sabriya Syed,
- Matthew Jensen,
- Human Genome Structural Variation Consortium (HGSVC),
- HGSVC Functional Analysis Working Group,
- Mark B. Gerstein,
- Michael C. Zody,
- Mark J.P. Chaisson,
- Michael E. Talkowski,
- Tobias Marschall,
- Jan O. Korbel,
- Evan E. Eichler,
- Charles Lee,
- and Xinghua Shi
Genome Res. December 2024 34: 2304-2318; Published in Advance December 5, 2024, doi:10.1101/gr.279419.124
...An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human s Chong Li1,2, Marc Jan Bonder3,4, Sabriya Syed5, Matthew Jensen6,7, Human Genome Structural Variation Consortium (HGSVC), HGSVC Functional Analysis Working Group, Mark B...
Select this article
Method: Predicting genotype-specific gene regulatory networks
- Deborah Weighill,
- Marouen Ben Guebila,
- Kimberly Glass,
- John Quackenbush,
- and John Platig
Genome Res. March 2022 32: 524-533; Published in Advance February 22, 2022, doi:10.1101/gr.275107.120
...that most (71%–100%) 1-Mb windows in the contribute to schizophrenia heritability (Loh et al. 2015). This suggests that many variants must act in concert to produce complex trait phenotypes, but the mechanisms by which they exert their influence are unclear. Functional genomics studies have provided some...
OPEN ACCESS ARTICLE
Select this article
Perspective: Biological data sciences in genome research
- Michael C. Schatz
Genome Res. October 2015 25: 1417-1422; doi:10.1101/gr.191684.115
...2013). As we become more capable at interpreting s and monitoring molecular changes, we will also see profound advances in themedical community toward recognizing genetic risk factors and treating diseases based on one’s personal genomic makeup (Collins and Varmus 2015). Outside of human genetics, we...
OPEN ACCESS ARTICLE
Select this article
Method: The dynamic landscape of fission yeast meiosis alternative-splice isoforms
- Zheng Kuang,
- Jef D. Boeke,
- and Stefan Canzar
Genome Res. January 2017 27: 145-156; Published in Advance November 17, 2016, doi:10.1101/gr.208041.116
...structures. We report the complexity of alternative splicing along isoforms, including 683 intra-molecularly co-associated intron pairs. We compare the dynamics of novel isoforms based on the number of supporting full-length reads with those of annotated isoforms and explore the translational capacity...
Select this article
Perspective: Can I be sued for that? Liability risk and the disclosure of clinically significant genetic research findings
- Amy L. McGuire,
- Bartha Maria Knoppers,
- Ma’n H. Zawati,
- and Ellen Wright Clayton
Genome Res. May 2014 24: 719-723; Published in Advance March 27, 2014, doi:10.1101/gr.170514.113
...and Health Policy, Baylor College of Medicine, Houston, Texas 77030, USA; 2 Centre of Genomics and Policy, McGill University, Montreal, Quebec H3A 0G1, Canada; 3 Center for Biomedical Ethics and Society, Vanderbilt University, Nashville, Tennessee 37203, USA Abstract...
Select this article
Resource: Diversity of miRNAs, siRNAs, and piRNAs across 25 Drosophila cell lines
- Jiayu Wen,
- Jaaved Mohammed,
- Diane Bortolamiol-Becet,
- Harrison Tsai,
- Nicolas Robine,
- Jakub O. Westholm,
- Erik Ladewig,
- Qi Dai,
- Katsutomo Okamura,
- Alex S. Flynt,
- Dayu Zhang,
- Justen Andrews,
- Lucy Cherbas,
- Thomas C. Kaufman,
- Peter Cherbas,
- Adam Siepel,
- and Eric C. Lai
Genome Res. July 2014 24: 1236-1250; Published in Advance July 1, 2014, doi:10.1101/gr.161554.113
...and Medicine, New York, New York 10065, USA; 4 New York Genome Center, New York, New York 10022, USA; 5 Temasek Life Sciences, Temasek Lifesciences Laboratory, National University of Singapore, 117604 Singapore; 6 Department of Biology, Indiana University, Bloomington...
OPEN ACCESS ARTICLE

For checked items

view abstracts
download to citation manager

Searching journal content for articles similar to West et al. 16 (5): 559.

Search Results

Modify Results

This search

Preprint Server

Current Issue

In This Issue

Citation format:
Results / page:
Results order: