Results 261 to 270 of about 174,007 (375)

Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes) [PDF]

, 2017
et al,, Montague, Michael J
core   +1 more source

Signatures of adaptation at key insecticide resistance loci in Anopheles gambiae in Southern Ghana revealed by reduced-coverage WGS [PDF]

Tristan P. W. Dennis, John Essandoh, Barbara K. Mable, Mafalda Viana, Alexander E. Yawson, David Weetman   +5 more
openalex   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, EarlyView.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source

Next-Generation Sequencing in Infectious-Disease Diagnostics: Economic, Regulatory, and Clinical Pathways to Adoption. [PDF]

Microbiologyopen
Osei Sekyere J.
europepmc   +1 more source

WG exploitation and integration

In this report the outcome of working groups organization with stakeholders and reviewing of a more suitable structure that could be developed within NanoMECommons will be reported, in order to support actions of Task 5.4.
openaire   +1 more source

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

Clinical Genetics, EarlyView.
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova, Natalia Semenova, Tatiana Cherevatova, Mikhail Skoblov   +3 more
wiley   +1 more source

Increased genomic predictive ability in mango using GWAS-preselected variants and fixed-effect SNPs. [PDF]

Front Plant Sci
Munyengwa N, Wilkinson MJ, Ortiz-Barrientos D, Dillon NL, Webb M, Ali A, Bally ISE, Myburg AA, Hardner CM.   +8 more
europepmc   +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

Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system. [PDF]

Front Mol Biosci
Wagner JT, Welle JT, Lucas Beckett IA, Emery KR, Cosgrove BA, Olszewski K, Wagner N, Bower TC, Yuan LC, Shull EM, Jade K, Clemens J, Magis AT, Campbell MB, Gordon OK, Bifulco CB, Piening BD.   +16 more
europepmc   +1 more source

Compilation of WG Reports

Compilation of WG ...
openaire   +1 more source