Results 211 to 220 of about 709,139 (287)

VCboost: reducing false positives in long-read variant calling for single-nucleotide polymorphism and indel detection in challenging genomic regions. [PDF]

Brief Bioinform
Zhang Y, Chen H, Liu X, He P, Dai Q.
europepmc   +1 more source

Disease Course After Anti‐CD20 Discontinuation in Secondary Progressive Multiple Sclerosis—A Multicenter Long‐Term Longitudinal Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To describe long‐term outcomes after anti‐CD20 discontinuation in selected patients with secondary progressive multiple sclerosis (SPMS) who remained without subsequent disease‐modifying therapy (DMT). Methods We retrospectively analyzed data from four centers in Austria and Switzerland.
Ferdinand Otto, Dariia Kliushnikova, Richard Friedrich Radlberger, Sinan Yasaroglu, Tobias Moser, Andrea Harrer, Kitty Kratzer, Wolfgang Hitzl, Christiane Gradl, Martin Schmidauer, Patrick Roth, Harald Hegen, Peter Wipfler   +12 more
wiley   +1 more source

Lancet2: Improved and accelerated somatic variant calling with joint multi-sample local assembly graphs. [PDF]

NAR Genom Bioinform
Musunuri RL, Zhu B, Clarke WE, Hooper W, Chu T, Shelton J, Corvelo A, Chung D, Sundar S, Novak AM, Paten B, Zody MC, Robine N, Narzisi G.   +13 more
europepmc   +1 more source

Cerebrospinal Fluid Over Plasma Links Analytes to Cognitive Decline in Older Adults at Risk for Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai, Audrey Zhu, Chunxuan Ma, Ming Wang, Yifan Yang, Lynn M. Bekris, Maria Khrestian, Frank P. DiFilippo, Mikhail Nasrallah, Aaron Burberry, James B. Leverenz, Yuan Hou, Feixiong Cheng, Stephen M. Rao   +13 more
wiley   +1 more source

Integrated Single-Strand DNA Capture and Haplotype-Guided Variant Calling Platform for Non-Invasive Prenatal Testing of Monogenic Disorders. [PDF]

Diagnostics (Basel)
Shen J, Liu W, Lu L, Yu L, Wang Y, Zhang N, Lin F, Diao Z, Li H, Xiao R, Zhu X, Zhang J.   +11 more
europepmc   +1 more source

Anticoagulation Treatment Response Among Phenotypic ESUS Clusters: Evidence From CASPR

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate treatment effect heterogeneity across phenotypic clusters of patients with cryptogenic embolic stroke using causal inference methods. Methods From a retrospective, multicenter cohort of patients with cryptogenic embolic stroke, we estimated the treatment effect of anticoagulation versus antiplatelet therapy in patients ...
Elena Badillo Goicoechea, Patrick Ellsworth, James E. Siegler, James R. Brorson, Christina M. Lineback, Frank G. Conyers, Deborah Kerrigan, Kelsey Eklund, Shadi Yaghi, Farid Khasiyev, Emiliya Melkumova, Collin J. Culbertson, Marissa D'Souza, Dinesh V. Jillella, Patrick Glover, Hassan Aboul‐Nour, Fadi Nahab, Mahan Shahrivari, Simona Nedelcu, David S. Liebeskind, Matthew M. Smith, Aaron Rothstein, Anna Bowman, Alicia Zha, Narendra Kala, Ahmad Abu Qdais, Sami Al Kasab, Mudassir Farooqui, Diana Rojas‐Soto, Yasmin Aziz, Franziska Herpich, Jean‐Philippe Daniel, Sean L. Thompson, Vivek Patel, Thanh N. Nguyen, Siddharth Sehgal, Wenzheng Yu, Wayneho Kam, Russel Van Coevering, Oana M. Dumitrascu, Muhammad Alvi, Balaji Krishnaiah, Setareh Salehi Omran, Guillermo Linares, Eesha Singh, Hamid Ali, Mary Penckofer, Jesse M. Thon, Shani Mannion, Dalia Chahien, Lucia Chen, Fawad Talat, Mehdi Abbasi, Richa Sharma   +53 more
wiley   +1 more source

Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant calling. [PDF]

NPJ Genom Med
Tsuji J, Rickles-Young M, Abreu J, Friedman A, Petersen C, Bryan J, Scheffler K, O'Connell T, Heyns T, Malolepsza E, Fleharty M, Larkin K, Livak KJ, Li S, Reardon DA, Wu CJ, Ott PA, Dao F, Rehm H, Jan M, Stewart C, Getz G, Jain V, Catreux S, Cibulskis C, Lennon N.   +25 more
europepmc   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

A novel and accelerated method for integrated alignment and variant calling from short and long reads. [PDF]

Front Bioinform
Hu J, Freed D, Feng H, Chen H, Li Z, Chen H.   +5 more
europepmc   +1 more source

Associations of Rheumatoid Arthritis Disease Activity With Frailty Over Five Years of Follow‐up

Arthritis Care &Research, EarlyView.
Objective To evaluate whether rheumatoid arthritis (RA) disease activity is associated with frailty both in cross‐section and longitudinally. Methods Participants within the Veterans Affairs Rheumatoid Arthritis (VARA) registry enrolled from 2003 to 2022 were included.
Courtney N. Loecker, Yangyuna Yang, Punyasha Roul, Aaron Baraff, Myra S. Schmaderer, Lani Zimmerman, Kaleb Michaud, Namrata Singh, Grant W. Cannon, Gary Kunkel, Ted R. Mikuls, Ariela R. Orkaby, Joshua F. Baker, Bryant R. England, Katherine D. Wysham   +14 more
wiley   +1 more source