Results 161 to 170 of about 98,141 (333)

Chromosomal instability in human trophoblast stem cells and placentas

Nature Communications
The human placenta, a unique tumor-like organ, is thought to exhibit rare aneuploidy associated with adverse pregnancy outcomes. Discrepancies in reported aneuploidy prevalence in placentas stem from limitations in modeling and detection methods.
Danyang Wang, Andrew Cearlock, Katherine Lane, Chongchong Xu, Ian Jan, Stephen McCartney, Ian Glass, Rajiv McCoy, Min Yang   +8 more
doaj   +1 more source

Accurate estimation of homologue-specific DNA concentration-ratios in cancer samples allows long-range haplotyping [PDF]

, 2011
Interpretation of allelic copy measurements at polymorphic markers in cancer samples presents distinctive challenges and opportunities. Due to frequent gross chromosomal alterations occurring in cancer (aneuploidy), many genomic regions are present at ...
Gad Getz, Matthew Meyerson, Scott L. Carter   +2 more
core   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions [PDF]

, 2018
Shen Gu, Madison Jernegan, Ignatia B. Van den Veyver, Sandra Peacock, Janice Smith, Amy M. Breman   +5 more
openalex   +1 more source

Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions

Clinical Genetics, EarlyView.
Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin, Claudine Rieubland, Thierry Nouspikel   +2 more
wiley   +1 more source

Abnormal cleavage patterns in equine in vitro‐produced embryos lead to higher early pregnancy loss

Equine Veterinary Journal, EarlyView.
Summary Background Despite significant advances, in vitro production (IVP) of equine embryos continues to lack standardised embryo classification criteria and is associated with increased rates of early pregnancy loss compared with in vivo‐derived blastocysts.
Soledad Martin‐Pelaez, Alejandro de la Fuente, Kazuki Takahashi, Hugo Monteiro, Mauricio Mendes, Stuart Meyers, Pouya Dini   +6 more
wiley   +1 more source

Cell-free fetal DNA: the new tool in fetal medicine. [PDF]

, 2014
Chitty, LS, Everett, TR
core   +1 more source

Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells [PDF]

Yan Zhao, Olga Tšuiko, Tatjana Jatsenko, Greet Peeters, Erika Souche, Mathilde Geysens, Eftychia Dimitriadou, Arne Vanhie, Karen Peeraer, Sophie Debrock, Hilde Van Esch, Joris Vermeesch   +11 more
openalex   +1 more source

Non-invasive, label-free optical analysis to detect aneuploidy within the inner cell mass of the preimplantation embryo [PDF]

, 2020
Tiffany C. Y. Tan, Saabah B. Mahbub, Carl A. Campugan, Jared M. Campbell, Abbas Habibalahi, Darren J. X. Chow, Sanam Mustafa, Ewa M. Goldys, Kylie R. Dunning   +8 more
openalex   +1 more source