Abstract Wheat (Triticum aestivum L.) landraces collected before the widespread regional adoption of Green Revolution cultivars provide a historical record of locally maintained germplasm. We characterized a panel of 202 accessions collected from Nepal and Bhutan between 1952 and 1958. Genotyping by Random Amplicon Sequencing‐Direct yielded 30,228 high‐
Li Yunfei +8 more
wiley +1 more source
A Comprehensive Pipeline for the Use of Short Read Next-Generation Sequencing (SR-NGS) in <i>CYP21A2</i> Diagnostic Genotyping. [PDF]
Fylaktou I +6 more
europepmc +1 more source
Evaluation of Mutation Risk Using Patient‐Derived Organoids in Patients With Lynch Syndrome
ABSTRACT Lynch syndrome (LS) is a hereditary cancer predisposition syndrome caused by germline mutation of DNA mismatch repair (MMR) genes, most notably associated with colorectal cancer. Although LS patients face high risk of CRC, risk can vary even among those with the same pathogenic MMR germline mutations. We suggest a functional assay platform for
Youmi Shin +10 more
wiley +1 more source
Bridging the gap between legacy polymerase chain reaction-based microsatellite data with high-throughput sequencing data for conservation genomics. [PDF]
Salih D +4 more
europepmc +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
Technical feasibility of a long read, fourth generation sequencing platform in diagnostic profiling of clinical routine samples: a proof-of-concept study. [PDF]
Vitale D +14 more
europepmc +1 more source
ABSTRACT The incidence of human papillomavirus‐positive (HPV+) oropharyngeal cancer (OPC) has increased rapidly, and HPV early antigen serology has been proposed as a scalable and cost‐effective early detection test. HPV seropositivity can precede clinical presentation of OPC by several years, so additional surveillance procedures may be necessary to ...
Lucas Penny +23 more
wiley +1 more source
ProGenFixer: An Ultrafast and Accurate Tool for Correcting Prokaryotic Genome Sequences Using a Mapping-Free Algorithm. [PDF]
Song L +15 more
europepmc +1 more source
Abstract The adaptive potential and resilience of cold‐adapted phytoplankton to climate change have the potential to impact polar marine food webs and global biogeochemical cycles. Two central but poorly constrained facets of adaptive potential in polar phytoplankton are standing genetic diversity and its spatial structure. Here, we partially sequenced
Ian W. Bishop, Tatiana A. Rynearson
wiley +1 more source
Comparison of variant callers using 60 532 multi-ancestry whole genome sequences. [PDF]
Zhou H +24 more
europepmc +1 more source

