Effect of age at puberty on risk of multiple sclerosis: A mendelian randomization study
Objective To investigate the potential for a causal effect of age at puberty on multiple
sclerosis (MS) susceptibility using a mendelian randomization (MR) approach. Methods We …
sclerosis (MS) susceptibility using a mendelian randomization (MR) approach. Methods We …
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
S Haworth, CY Shapland, C Hayward, BP Prins… - Nature …, 2019 - nature.com
Cranial growth and development is a complex process which affects the closely related traits
of head circumference (HC) and intracranial volume (ICV). The underlying genetic …
of head circumference (HC) and intracranial volume (ICV). The underlying genetic …
MALVA: genotyping by Mapping-free ALlele detection of known VAriants
The amount of genetic variation discovered in human populations is growing rapidly leading
to challenging computational tasks, such as variant calling. Standard methods for …
to challenging computational tasks, such as variant calling. Standard methods for …
Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology
X Han, A Qassim, J An, H Marshall… - Human Molecular …, 2019 - academic.oup.com
Optic nerve head morphology is affected by several retinal diseases. We measured the
vertical optic disc diameter (DD) of the UK Biobank (UKBB) cohort (N= 67 040) and …
vertical optic disc diameter (DD) of the UK Biobank (UKBB) cohort (N= 67 040) and …
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions
Human population isolates provide a snapshot of the impact of historical demographic
processes on population genetics. Such data facilitate studies of the functional impact of rare …
processes on population genetics. Such data facilitate studies of the functional impact of rare …
[HTML][HTML] Recent advances and perspectives in next generation sequencing application to the genetic research of type 2 diabetes
YA Nasykhova, YA Barbitoff… - World journal of …, 2019 - ncbi.nlm.nih.gov
Abstract Type 2 diabetes (T2D) mellitus is a common complex disease that currently affects
more than 400 million people worldwide and has become a global health problem. High …
more than 400 million people worldwide and has become a global health problem. High …
Established and emerging strategies to crack the genetic code of obesity
V Tam, M Turcotte, D Meyre - Obesity Reviews, 2019 - Wiley Online Library
Tremendous progress has been made in the genetic elucidation of obesity over the past two
decades, driven largely by technological, methodological and organizational innovations …
decades, driven largely by technological, methodological and organizational innovations …
An evolutionary framework for measuring epigenomic information and estimating cell-type-specific fitness consequences
Here we ask the question “How much information do epigenomic datasets provide about
human genomic function?” We consider nine epigenomic features across 115 cell types and …
human genomic function?” We consider nine epigenomic features across 115 cell types and …
Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures
P Peris, E González Roca… - Journal of Bone and …, 2019 - academic.oup.com
Atypical femoral fractures (AFFs) are uncommon and often related to prolonged
bisphosphonate (BP) treatment. Isolated cases have been linked to mutations of tissue …
bisphosphonate (BP) treatment. Isolated cases have been linked to mutations of tissue …
Sequence variants associating with urinary biomarkers
S Benonisdottir, RP Kristjansson… - Human Molecular …, 2019 - academic.oup.com
Urine dipstick tests are widely used in routine medical care to diagnose kidney and urinary
tract and metabolic diseases. Several environmental factors are known to affect the test …
tract and metabolic diseases. Several environmental factors are known to affect the test …