Analysis of Archived Residual Newborn Screening Blood Spots After Whole Genome Amplification [PDF]
, 2015 Deidentified newborn screening bloodspot samples (NBS) represent a valuable potential resource for genomic research if impediments to whole exome sequencing of NBS deoxyribonucleic acid (DNA), including the small amount of genomic DNA in NBS material ...
Benstead-Hume, Graeme +7 more
core +3 more sources
Whole-exome sequencing of rectal neuroendocrine tumors
Endocrine-Related Cancer, 2023 The genetic characteristics of rectal neuroendocrine tumors (R-NETs) were poorly understood. Depicting the genetic characteristics may provide a biological basis for prognosis prediction and novel treatment development. Tissues of 18 R-NET patients were analyzed using whole-exome sequencing.
Yuanliang Li +12 more
openaire +2 more sources
Clinical exome performance for reporting secondary genetic findings. [PDF]
, 2014 BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P +6 more
core +1 more source
From Genomes to GENE-omes: Exome Sequencing Concept and Applications in Crop Improvement
Frontiers in Plant Science, 2017 Exome sequencing represents targeted capture and sequencing of 1–2% of ‘high-value genomic regions’ (subset of the genome) which are enriched for functional variants and harbors low level of repetitive regions.
Parampreet Kaur, Kishor Gaikwad
doaj +1 more source
Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
Journal of Medical Case Reports, 2023 Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala +4 more
doaj +1 more source
Whole exome and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]
, 2016 Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai +11 more
core +3 more sources
Detection of Somatic Copy Number Alterations in Cancer Using Targeted Exome Capture Sequencing
Neoplasia: An International Journal for Oncology Research, 2011 The research community at large is expending considerable resources to sequence the coding region of the genomes of tumors and other human diseases using targeted exome capture (i.e., “whole exome sequencing”).
Robert J. Lonigro +9 more
doaj +1 more source
Fast individual ancestry inference from DNA sequence data leveraging allele frequencies for multiple populations. [PDF]
, 2015 BackgroundEstimation of individual ancestry from genetic data is useful for the analysis of disease association studies, understanding human population history and interpreting personal genomic variation. New, computationally efficient methods are needed
Bansal, Vikas, Libiger, Ondrej
core +2 more sources
Semantic prioritization of novel causative genomic variants.
PLoS Computational Biology, 2017 Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today.
Imane Boudellioua +9 more
doaj +1 more source
Detecting identity by descent and homozygosity mapping in whole-exome sequencing data. [PDF]
PLoS ONE, 2012 The detection of genetic segments of Identical by Descent (IBD) in Genome-Wide Association Studies has proven successful in pinpointing genetic relatedness between reportedly unrelated individuals and leveraging such regions to shortlist candidate genes.
Zhong Zhuang +3 more
doaj +1 more source