Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. [PDF]
, 2016 Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association.
Dumas, Kevin +13 more
core +2 more sources
Exome Sequencing and the Management of Neurometabolic Disorders [PDF]
New England Journal of Medicine, 2016 Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets pathophysiological features ...
Lin Hua Zhang +65 more
openaire +5 more sources
Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF]
, 2013 BACKGROUND: The targeted capture and sequencing of genomic regions has rapidly demonstrated its utility in genetic studies. Inherent in this technology is considerable heterogeneity of target coverage and this is expected to systematically impact our ...
A McKenna +34 more
core +1 more source
When moments matter: Finding answers with rapid exome sequencing
Molecular Genetics & Genomic Medicine, 2020 Background When time is of the essence in critical care cases, a fast molecular diagnosis is often necessary to help health care providers quickly determine best next steps for treatments, prognosis, and counseling of their patients.
Zöe Powis +13 more
doaj +1 more source
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
Exome Sequencing in Suspected Monogenic Dyslipidemias [PDF]
Circulation: Cardiovascular Genetics, 2015 Background— Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias. Methods and Results— We performed exome sequencing on 213 selected family members
John P. Kane +47 more
openaire +7 more sources
Exome sequencing: the expert view [PDF]
Genome Biology, 2011 To complement our special issue on exome sequencing, Genome Biology asked several leaders in the field for their views on this new approach. Leslie G Biesecker (LGB), Jim C Mullikin (JM) and Kevin V Shianna (KVS) discuss the reasons for the popularity of exome sequencing and its contribution to genomics.
Jim C. Mullikin +2 more
openaire +2 more sources
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia [PDF]
, 2016 We report the findings from a patient who presented with a concurrent mediastinal germ cell tumor (GCT) and acute myeloid leukemia (AML). Bone marrow pathology was consistent with a diagnosis of acute megakaryoblastic leukemia (AML M7), and biopsy of an ...
Demeter, Ryan T +12 more
core +2 more sources
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. [PDF]
, 2020 BackgroundThe contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood.
Bernstein, Daniel +23 more
core +3 more sources
Exome sequencing in dementia with Lewy bodies [PDF]
Translational Psychiatry, 2016 AbstractDementia with Lewy bodies (DLB) is the second most common form of degenerative dementia. Siblings of affected individuals are at greater risk of developing DLB, but little is known about the underlying genetic basis of the disease. We set out to determine whether mutations in known highly penetrant neurodegenerative disease genes are found in ...
Heather J. Cordell +22 more
openaire +5 more sources