The application of next-generation sequencing in the autozygosity mapping of human recessive diseases
FS Alkuraya - Human genetics, 2013 - Springer
Autozygosity, or the inheritance of two copies of an ancestral allele, has the potential to not
only reveal phenotypes caused by biallelic mutations in autosomal recessive genes, but to …
only reveal phenotypes caused by biallelic mutations in autosomal recessive genes, but to …
[HTML][HTML] Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families
AM Alazami, N Patel, HE Shamseldin, S Anazi… - Cell reports, 2015 - cell.com
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of
closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous …
closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous …
[HTML][HTML] Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population
D Monies, M Abouelhoda, M Assoum… - The American Journal of …, 2019 - cell.com
We report the results of clinical exome sequencing (CES) on> 2,200 previously unpublished
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
L Abu-Safieh, M Alrashed, S Anazi, H Alkuraya… - Genome …, 2013 - genome.cshlp.org
Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of
photoreceptor function and contributes significantly to the etiology of blindness globally but …
photoreceptor function and contributes significantly to the etiology of blindness globally but …
[HTML][HTML] Research techniques made simple: genome-wide homozygosity/autozygosity mapping is a powerful tool for identifying candidate genes in autosomal …
Homozygosity mapping (HM), also known as autozygosity mapping, was originally used to
map genes underlying homozygous autosomal recessive Mendelian diseases in patients …
map genes underlying homozygous autosomal recessive Mendelian diseases in patients …
[HTML][HTML] Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
L AlAbdi, HE Shamseldin, E Khouj, R Helaby… - Genome medicine, 2023 - Springer
Background Long-read whole genome sequencing (lrWGS) has the potential to address the
technical limitations of exome sequencing in ways not possible by short-read WGS …
technical limitations of exome sequencing in ways not possible by short-read WGS …
[HTML][HTML] TLE6 mutation causes the earliest known human embryonic lethality
Background Embryonic lethality is a recognized phenotypic expression of individual gene
mutations in model organisms. However, identifying embryonic lethal genes in humans is …
mutations in model organisms. However, identifying embryonic lethal genes in humans is …
[HTML][HTML] Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism
Background Primordial dwarfism is a state of extreme prenatal and postnatal growth
deficiency, and is characterized by marked clinical and genetic heterogeneity. Results Two …
deficiency, and is characterized by marked clinical and genetic heterogeneity. Results Two …
[HTML][HTML] Characterizing the morbid genome of ciliopathies
Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable
progress has been made in understanding the molecular basis of these genetically …
progress has been made in understanding the molecular basis of these genetically …
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition
Intellectual disability is a common and highly heterogeneous disorder etiologically. In a
multiplex consanguineous family, we applied autozygosity mapping and exome sequencing …
multiplex consanguineous family, we applied autozygosity mapping and exome sequencing …