Searching journal content for articles similar to Rodriguez et al. 25 (2): 280.

Displaying results 1-2 of 2

For checked items

view abstracts
download to citation manager

Select this article
Method: A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders
- Daniel A. King,
- Tomas W. Fitzgerald,
- Ray Miller,
- Natalie Canham,
- Jill Clayton-Smith,
- Diana Johnson,
- Sahar Mansour,
- Fiona Stewart,
- Pradeep Vasudevan,
- Matthew E. Hurles,
- and the DDD Study
Genome Res. April 2014 24: 673-687; Published in Advance December 19, 2013, doi:10.1101/gr.160465.113
..., with subsequent inspection to refine the extent of the UPD. The perchromosome binomial test can detect UPD events accurately from genotyping platforms of variable density, such as whole-exome data, SNP data, and whole- sequence data, without extensive platform-specific parameter manipulation. This method avoids...
Select this article
LETTER: Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion
- Ivon Cuscó,
- Roser Corominas,
- Mònica Bayés,
- Raquel Flores,
- Núria Rivera-Brugués,
- Victoria Campuzano,
- and Luis A. Pérez-Jurado
Genome Res. May 2008 18: 683-694; Published in Advance February 21, 2008, doi:10.1101/gr.073197.107
...transmitters and four non-transmitters ( Table 1 ). Eight transmitting parents (4.44%) and two non-transmitters (1.11%) displayed values in the same range as some WBS patients, either 3:2 or 2:3, indicating a deletion of one NCF1 pseudogene-type copy. Four transmitting parents (2.22%) and two non...

For checked items

view abstracts
download to citation manager

Modify Results

Citation format:
Results / page:
Results order:

Preprint Server

Current Issue

March 2026, 36 (3)

Searching journal content for articles similar to Rodriguez et al. 25 (2): 280.

Search Results

Modify Results

This search

Preprint Server

Current Issue

In This Issue