Searching journal content for articles similar to Sekar et al. 30 (12): 1695.

Displaying results 1-10 of 254

For checked items

view abstracts
download to citation manager

Select this article
Research: Optical genome mapping identifies rare structural variants in neural tube defects
- Nikhil S. Sahajpal,
- Jane Dean,
- Benjamin Hilton,
- Timothy Fee,
- Cindy Skinner,
- Alex Hastie,
- Barbara R. DuPont,
- Alka Chaubey,
- Michael J. Friez,
- and Roger E. Stevenson
Genome Res. April 2025 35: 798-809; Published in Advance March 19, 2025, doi:10.1101/gr.279318.124
...is associated with 15q24 microdeletion syndrome, which is characterized by developmental delay, intellectual disability, and characteristic facial features. While congenital malformations are rarely reported, these include structural brain anomalies, cardiovascular malformations, congenital diaphragmatic hernia...
OPEN ACCESS ARTICLE
Select this article
Research: Methylomic trajectories across human fetal brain development
- Helen Spiers,
- Eilis Hannon,
- Leonard C. Schalkwyk,
- Rebecca Smith,
- Chloe C.Y. Wong,
- Michael C. O’Donovan,
- Nicholas J. Bray,
- and Jonathan Mill
Genome Res. March 2015 25: 338-352; Published in Advance February 3, 2015, doi:10.1101/gr.180273.114
...Methylomic trajectories across human fetal brain development Helen Spiers 1 , Eilis Hannon 2 , Leonard C. Schalkwyk 3 , Rebecca Smith 1 , Chloe C.Y. Wong 1 , Michael C. O’Donovan 4 , Nicholas J. Bray 1...
OPEN ACCESS ARTICLE
Select this article
Research: Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing
- Sergey Aganezov,
- Sara Goodwin,
- Rachel M. Sherman,
- Fritz J. Sedlazeck,
- Gayatri Arun,
- Sonam Bhatia,
- Isac Lee,
- Melanie Kirsche,
- Robert Wappel,
- Melissa Kramer,
- Karen Kostroff,
- David L. Spector,
- Winston Timp,
- W. Richard McCombie,
- and Michael C. Schatz
Genome Res. September 2020 30: 1258-1273; Published in Advance September 4, 2020, doi:10.1101/gr.260497.119
...to perform methylation analysis, RNA-seq, and other assays on the samples.Improved sensitivity and high concordance in structural variation inference with ONT and PacBio long readsUsing these data (Fig. 1B,C; Supplemental Fig. 1), we then used an ensemble of methods to infer all types of SVs at least 50 bp...
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
Research: Chromosome-wide profiling of X-chromosome inactivation and epigenetic states in fetal brain and placenta of the opossum, Monodelphis domestica
- Xu Wang,
- Kory C. Douglas,
- John L. VandeBerg,
- Andrew G. Clark,
- and Paul B. Samollow
Genome Res. January 2014 24: 70-83; Published in Advance September 24, 2013, doi:10.1101/gr.161919.113
...modifications in fetal brain and extra-embryonic membranes in the gray, short-tailed opossum (Monodelphis domestica). Themajority of X-linked genes (152 of 176 genes with trackable SNP variants) exhibited paternally imprinted expression, with nearly 100% of transcripts derived from the maternal allele; whereas...
Select this article
Research: Oxygen-induced stress reveals context-specific gene regulatory effects in human brain organoids
- Benjamin D. Umans and
- Yoav Gilad
Genome Res. August 2025 35: 1689-1700; Published in Advance June 2, 2025, doi:10.1101/gr.280219.124
...disease susceptibility. This approach goes beyond characterizing gene regulatory variation in static, postmortem tissue and opens new avenues for studying GxE interactions in a controlled, in vitro setting.ResultsWe differentiated brain organoids from the induced pluripotent stem cells (iPSCs) of 21...
OPEN ACCESS ARTICLE
Select this article
Review: Artificial intelligence and machine learning in cell-free-DNA-based diagnostics
- W.H. Adrian Tsui,
- Spencer C. Ding,
- Peiyong Jiang,
- and Y.M. Dennis Lo
Genome Res. January 2025 35: 1-19; doi:10.1101/gr.278413.123
...FF and PREFACE exclude windows located on Chromosomes 13, 18, and 21 from the model, as the copy number variation can also be used to estimate fetal DNA fraction (Yu et al. 2017). Because the training data set might include fetal aneuploidies, the model may wrongly predict that loci on Chromosomes 13, 18, and 21...
OPEN ACCESS ARTICLE
Select this article
Research: Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans
- Xavi Guitart,
- David Porubsky,
- DongAhn Yoo,
- Max L. Dougherty,
- Philip C. Dishuck,
- Katherine M. Munson,
- Alexandra P. Lewis,
- Kendra Hoekzema,
- Jordan Knuth,
- Stephen Chang,
- Tomi Pastinen,
- and Evan E. Eichler
Genome Res. November 2024 34: 1798-1810; Published in Advance August 6, 2024, doi:10.1101/gr.279299.124
...the GRCh38 or T2T-CHM13 human references (Fig. 6A; Supplemental Fig. S12).At first glance, this incredible genetic variation of TBC1D3 conflicts with the proposed critical function in brain cortical expansion. Leveraging a deep long-read Iso-Seq data set from two developmental contexts (iPSCs and fetal...
OPEN ACCESS ARTICLE
Select this article
Research: Neurons show distinctive DNA methylation profile and higher interindividual variations compared with non-neurons
- Kazuya Iwamoto,
- Miki Bundo,
- Junko Ueda,
- Michael C. Oldham,
- Wataru Ukai,
- Eri Hashimoto,
- Toshikazu Saito,
- Daniel H. Geschwind,
- and Tadafumi Kato
Genome Res. May 2011 21: 688-696; Published in Advance April 5, 2011, doi:10.1101/gr.112755.110
...with non-neuronal MRs showed significantly higher correlation to the eigengenes of mitochondria-related modules compared with all brain-expressed probe sets. Neuronal samples showed higher interindividual variation than non-neuronal samples We next assessed the interindividual variation of the promoter DNA...
Select this article
Method: A unified analysis of atlas single-cell data
- Hao Chen,
- Nam D. Nguyen,
- Matthew Ruffalo,
- and Ziv Bar-Joseph
Genome Res. May 2025 35: 1219-1233; Published in Advance February 18, 2025, doi:10.1101/gr.279631.124
...and modalities. Existing methods use cells as the reference unit, hindering downstream gene-based analysis and removing genuine biological variation. Here we present GIANT, an integration method designed for atlas-scale gene analysis across cell types and tissues. GIANT converts data sets into gene graphs...
OPEN ACCESS ARTICLE

For checked items

view abstracts
download to citation manager

Searching journal content for articles similar to Sekar et al. 30 (12): 1695.

Search Results

Modify Results

This search

Preprint Server

Current Issue

In This Issue

Citation format:
Results / page:
Results order: