Results 1 to 10 of about 583 (65)

Detection of pathogenic variants in Alzheimer’s disease related genes in Bulgarian patients by pooled whole-exome sequencing

Biotechnology & Biotechnological Equipment, 2023
In an effort to better understand the complex genetic background of Alzheimer’s disease (AD) we performed high-coverage whole-exome sequencing of a DNA pool assembled of 66 Bulgarian AD patients.
Sena Karachanak-Yankova, Dimitar Serbezov, Marta Mihaylova, Dragomira Nikolova, Lubomir Balabanski, Vera Damyanova, Olga Antonova, Rada Staneva, Mihail Ganev, Victoria Spasova, Blaga Rukova, Desislava Nesheva, Slavica Josifovska, Mikaela Stancheva, Diana Belejanska, Mariya Petrova, Shima Mehrabian, Latchezar Traykov, Savina Hadjidekova, Draga Toncheva   +19 more
doaj   +3 more sources

Network Analytics Enabled by Generating a Pool of Network Variants from Noisy Data

Entropy, 2023
Mapping network nodes and edges to communities and network functions is crucial to gaining a higher level of understanding of the network structure and functions.
Aamir Mandviwalla, Amr Elsisy, Muhammad Saad Atique, Konstantin Kuzmin, Chris Gaiteri, Boleslaw K. Szymanski   +5 more
doaj   +3 more sources

Exploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture

Frontiers in Dental Medicine, 2021
Objective: To identify which genes are associated with the clinical phenotype of amelogenesis Imperfecta (AI) and to elucidate which of these genes participate in the determination of isolated and syndromic forms.Methods: In this review, all data on ...
Blanca Urzúa, Ana Ortega-Pinto, Daniela Adorno-Farias, Irene Morales-Bozo, Sandra Rojas-Flores, Diego Briones-Marín, Constanza Lepiman-Torres   +6 more
doaj   +3 more sources

Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants.

PLoS Genetics, 2023
The unknown pathogenicity of a significant number of variants found in cancer-related genes is attributed to limited epidemiological data, resulting in their classification as variant of uncertain significance (VUS). To date, Breast Cancer gene-2 (BRCA2)
Sounak Sahu, Teresa L Sullivan, Alexander Y Mitrophanov, Mélissa Galloux, Darryl Nousome, Eileen Southon, Dylan Caylor, Arun Prakash Mishra, Christine N Evans, Michelle E Clapp, Sandra Burkett, Tyler Malys, Raj Chari, Kajal Biswas, Shyam K Sharan   +14 more
doaj   +1 more source

Variation and optionality in clitic climbing in Argentinean Spanish

Isogloss, 2015
Since Cinque’s (2006:31-32) four-way typology of languages in terms of clitic climbing (CC, herein), those in which CC displays optionality, such as Argentinean Spanish (ArgSp, herein), remain poorly understood. This paper aims to address this need. Here,
Ioanna Sitaridou, Helen Whimpanny, Laura Ayres   +2 more
doaj   +3 more sources

A two-dimensional pooling strategy for rare variant detection on next-generation sequencing platforms. [PDF]

PLoS ONE, 2014
We describe a method for pooling and sequencing DNA from a large number of individual samples while preserving information regarding sample identity. DNA from 576 individuals was arranged into four 12 row by 12 column matrices and then pooled by row and ...
Philip C Zuzarte, Robert E Denroche, Gordon Fehringer, Hagit Katzov-Eckert, Rayjean J Hung, John D McPherson   +5 more
doaj   +1 more source

High-throughput functional analysis of regulatory variants using a massively parallel reporter assay

STAR Protocols, 2023
Summary: Association studies describe genetic associations between noncoding variants and disease susceptibility; however, they do not provide functional insight into the underlying molecular mechanisms of these variants.
Kate Delfosse, Chiara Gerhardinger, John L. Rinn, Philipp G. Maass   +3 more
doaj   +1 more source

Optimizing the number of variants tracked to follow disease burden with circulating tumor DNA assays in metastatic colorectal cancer

Therapeutic Advances in Medical Oncology, 2023
Background: The number of somatic mutations detectable in circulating tumor DNA (ctDNA) is highly heterogeneous in metastatic colorectal cancer (mCRC).
Mélina Boutin, James T. Topham, Harriet Feilotter, Hagen F. Kennecke, Félix Couture, Mohammed Harb, Peter Kavan, Scott Berry, Howard J. Lim, John R. Goffin, Chaudhary Ahmad, Anthony Lott, Daniel J. Renouf, Derek J. Jonker, Dongsheng Tu, Chris J. O’Callaghan, Eric X. Chen, Jonathan M. Loree   +17 more
doaj   +1 more source

Case-control association testing of common variants from sequencing of DNA pools. [PDF]

PLoS ONE, 2013
While genome-wide association studies (GWAS) have been successful in identifying a large number of variants associated with disease, the challenge of locating the underlying causal loci remains.
Allan F McRae, Melinda M Richter, Penelope A Lind   +2 more
doaj   +1 more source

Efficient and cost effective population resequencing by pooling and in-solution hybridization. [PDF]

PLoS ONE, 2011
High-throughput sequencing of targeted genomic loci in large populations is an effective approach for evaluating the contribution of rare variants to disease risk.
Vikas Bansal, Ryan Tewhey, Emily M Leproust, Nicholas J Schork   +3 more
doaj   +1 more source