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Items: 5

Select item 52105961.

The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data

Kira M. Wong, Kristofor Langlais, Geoffrey S. Tobias, Colette Fletcher-Hoppe, Donna Krasnewich, Hilary S. Leeds, Laura Lyman Rodriguez, Georgy Godynskiy, Valerie A. Schneider, Erin M. Ramos, Stephen T. Sherry

Nucleic Acids Res. 2017 Jan 4; 45(Database issue): D819–D826. Published online 2016 Nov 28. doi: 10.1093/nar/gkw1139

PMCID:: PMC5210596

Article PDF–3.2M

Select item 63964202.

Bayesian-based noninvasive prenatal diagnosis of single-gene disorders

Tom Rabinowitz, Avital Polsky, David Golan, Artem Danilevsky, Guy Shapira, Chen Raff, Lina Basel-Salmon, Reut Tomashov Matar, Noam Shomron

Genome Res. 2019 Mar; 29(3): 428–438. doi: 10.1101/gr.235796.118

PMCID:: PMC6396420

Article PDF–937K

Select item 40589443.

Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing

Ladislav Rampášek, Aryan Arbabi, Michael Brudno

Bioinformatics. 2014 Jun 15; 30(12): i212–i218. Published online 2014 Jun 11. doi: 10.1093/bioinformatics/btu292

PMCID:: PMC4058944

Article PDF–2.3M

Select item 33798844.

Non-invasive whole genome sequencing of a human fetus

Jacob O. Kitzman, Matthew W. Snyder, Mario Ventura, Alexandra P. Lewis, Ruolan Qiu, LaVone E. Simmons, Hilary S. Gammill, Craig E. Rubens, Donna A. Santillan, Jeffrey C. Murray, Holly K. Tabor, Michael J. Bamshad, Evan E. Eichler, Jay Shendure

Sci Transl Med. Author manuscript; available in PMC 2012 Dec 6.

Published in final edited form as: Sci Transl Med. 2012 Jun 6; 4(137): 137ra76. doi: 10.1126/scitranslmed.3004323