Results 251 to 260 of about 12,731,337 (303)

The value of quantitative fluorescence polymerase chain reaction for the products of conception in the era of copy number variation sequencing. [PDF]

Front Genet
Yang S, Zhang H, Wang Y, Zhang Q, Wu Y, Fu X, Li R.   +6 more
europepmc   +1 more source

A Two‐Stage Plasma Biomarker Algorithm Reduces Amyloid PET Use and the p‐Tau217 Gray Zone

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐Tau217 leaves 30%–50% of patients in an indeterminate “gray zone” often requiring Aβ‐PET. We developed GRAD (Gatekeeper‐Reflex for Alzheimer's Disease), a two‐stage Aβ‐positivity prediction model to improve classification while reserving Aβ‐PET for residual uncertainty.
Harthik Parankusham, Casey Vanderlip, Colin Birkenbihl, Eashwar Krishna, Chizobam Ugboaja, Andrew E. Budson, Brandon Frank, for the Alzheimer's Disease Neuroimaging Initiative   +7 more
wiley   +1 more source

Optic nerve sheath meningioma exhibits neural niche-associated transcriptomic features and rare copy number variation-linked evolution. [PDF]

Brain Pathol
Sato D, Miyawaki S, Sakai Y, Ohara K, Teranishi Y, Hirano Y, Umekawa M, Tsuchiya T, Ogawa S, Hirata S, Hongo H, Ono H, Komura D, Ushiku T, Ishikawa S, Saito N.   +15 more
europepmc   +1 more source

White matter microstructure differences between 15q11.2 copy number variation carriers and non-carriers in mid-to-late life. [PDF]

Transl Psychiatry
Korbmacher M, Boen R, Andreassen OA, Westlye LT, Sønderby IE, Maximov II.   +5 more
europepmc   +1 more source

In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy? [PDF]

Front Med (Lausanne)
Yang S, Li R, Xin S, He Y, Teng S, Gao Y, Fu X.   +6 more
europepmc   +1 more source

Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation. [PDF]

Glob Med Genet
Zhang Y, Zhang X, Chen D.
europepmc   +1 more source

Benchmarking copy number variation detection with low-coverage whole-genome sequencing. [PDF]

Brief Bioinform
Wang N, Tao ZY, Wu T, Wang J, Wang W, Shi H, Liu XS.   +6 more
europepmc   +1 more source

Highly polymorphic copy number variation in a segmental duplication in the mouse pseudoautosomal region even within inbred laboratory strains. [PDF]

Proc Jpn Acad Ser B Phys Biol Sci
Kasahara T.
europepmc   +1 more source

Phenome-wide association of multiallelic copy number variation in 422,170 UK Biobank individuals reveals novel genetic loci associated with disease

Eisenberg M, Packer R, Shrine N, Demidov G, Pack H, Hollox EJ, Fawcett K.   +6 more
europepmc   +1 more source

Opposing copy number variation dynamics accompany adaptation to glucose and galactose in diploid yeast

Nagendra P, Choudhary S, Saini S.
europepmc   +1 more source