Results 61 to 70 of about 487,550 (165)

Simulating Illumina data with InSilicoSeq

, 2017
InSilicoSeq (or iss) is a sequencing simulator producing (relatively) realistic Illumina reads primarily intended for simulating metagenomic samples, although it can be used to produce sequencing data from a single genome.InSilicoSeq is written in python, and use a kernel density estimation model to model the read quality of real sequencing data ...
openaire   +1 more source

P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing

Genetics in Medicine Open
Joshua Lowry, Zinayida Schlachetzki, Brendan Burns, Ajay Varadarajan, Brittany Thomas, Richard Wang, Evgenii Chekalin, Jon Albay, Marwan Shinawi, Dorothy Grange, Ryan Taft, Denise Perry, Akanchha Kesari   +12 more
doaj   +1 more source

P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population

Genetics in Medicine Open, 2023
Brittany Thomas, Akanchha Kesari, Aime Lumaka, Mario Cornejo-Olivas, David Ward, Parul Jayakar, Donald Basel, Marilyn Jones, Erin Thorpe, Denise Perry, Ryan Taft   +10 more
doaj   +1 more source

Surface sediments prokaryotic communities: five years of 16S rRNA amplicon sequencing data from the northernmost part of the Mediterranean Sea. [PDF]

Data Brief
Tomasi N, Banchi E, Manna V, Celussi M.
europepmc   +1 more source

P761: Calculating maternal polygenic risk scores from prenatal screening by cell-free DNA data*

Genetics in Medicine Open
Sung Kim, Victoria Corey, Mauro Chavez, Layla Qasim, Cosmin Deciu, Angela Henry, Salome Bagayan, Sasha Treadup, Mike Mehan, Eileen de Feo   +9 more
doaj   +1 more source

Comparative Evaluation of Comprehensive DNA and RNA Sequencing Platforms with Subsequent Clinical Validation for Hematolymphoid Malignancies. [PDF]

Cancers (Basel)
Parlow JNC, Salcedo-Porras N, AlBulushi F, Yip S, McGinnis E, Spence T.   +5 more
europepmc   +1 more source

P698: Accurate genotyping of high homology HBA and SMN genes from whole exome sequencing

Genetics in Medicine Open
Ashley Carroll, Jon Albay, Dianne Hernandez, Jonathan Nery, Susanne Angelow, Aaron Halpern, Kingshuk Mukherjee, Eric Roller, Vitor Onuchic, James Han   +9 more
doaj   +1 more source

Complete circular genome sequences representing prevalent sub-lineages of clinical <i>Listeria monocytogenes</i> isolates from Germany. [PDF]

Microbiol Resour Announc
Wamp S, Flieger A, Halbedel S.
europepmc   +1 more source

P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases

Genetics in Medicine Open
Revathi Rajkumar, Anjana Chandrasekhar, Zinayida Schlachetzki, Samin Sajan, Brittany Thomas, Becky Milewski, Joshua Lowry, Richard Wang, Jon Albay, Danny Miller, Kaitlyn Burns, Laura Davis-Keppen, Nora Urraca, Kerri Bosfield, Katherine Cung, Erin Venti, Ryan Taft, Denise Perry, Akanchha Kesari   +18 more
doaj   +1 more source

Erratum: Single-neuron RNA-Seq: technical feasibility and reproducibility

Frontiers in Genetics, 2013
Shenfeng eQiu, Shujun eLuo, Oleg eEvgrafov, Robin eLi, Gary P Schroth, Pat eLevitt, James A Knowles, Kai eWang   +7 more
doaj   +1 more source