Next-generation sequencing technology: current trends and advancements

H Satam, K Joshi, U Mangrolia, S Waghoo, G Zaidi… - Biology, 2023 - mdpi.com
Simple Summary Next-generation sequencing (NGS) is a powerful tool used in genomics
research. NGS can sequence millions of DNA fragments at once, providing detailed …

[HTML][HTML] Clinical and biological characterization of skin pigmentation diversity and its consequences on UV impact

S Del Bino, C Duval, F Bernerd - International journal of molecular …, 2018 - mdpi.com
Skin color diversity is the most variable and noticeable phenotypic trait in humans resulting
from constitutive pigmentation variability. This paper will review the characterization of skin …

Loci associated with skin pigmentation identified in African populations

NG Crawford, DE Kelly, MEB Hansen, MH Beltrame… - Science, 2017 - science.org
INTRODUCTION Variation in pigmentation among human populations may reflect local
adaptation to regional light environments, because dark skin is more photoprotective …

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record

WQ Wei, LA Bastarache, RJ Carroll, JE Marlo… - PloS one, 2017 - journals.plos.org
Objective To compare three grou**s of Electronic Health Record (EHR) billing codes for
their ability to represent clinically meaningful phenotypes and to replicate known genetic …

The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation

L Chaitanya, K Breslin, S Zuñiga, L Wirken… - Forensic Science …, 2018 - Elsevier
Abstract Forensic DNA Phenoty** (FDP), ie the prediction of human externally visible traits
from DNA, has become a fast growing subfield within forensic genetics due to the …

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

C Pattaro, A Teumer, M Gorski, AY Chu, M Li… - Nature …, 2016 - nature.com
Reduced glomerular filtration rate defines chronic kidney disease and is associated with
cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide …

Genes associated with Alzheimer's disease: an overview and current status

M Giri, M Zhang, Y Lü - Clinical interventions in aging, 2016 - Taylor & Francis
Alzheimer's disease (AD) is a progressive, neurodegenerative disease and the most
common form of dementia in elderly people. It is an emerging public health problem that …

Extreme polygenicity of complex traits is explained by negative selection

LJ O'Connor, AP Schoech, F Hormozdiari… - The American Journal of …, 2019 - cell.com
Complex traits and common diseases are extremely polygenic, their heritability spread
across thousands of loci. One possible explanation is that thousands of genes and loci have …

Forensic DNA Phenoty**: Predicting human appearance from crime scene material for investigative purposes

M Kayser - Forensic Science International: Genetics, 2015 - Elsevier
Forensic DNA Phenoty** refers to the prediction of appearance traits of unknown sample
donors, or unknown deceased (missing) persons, directly from biological materials found at …

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

I Voineagu, X Wang, P Johnston, JK Lowe, Y Tian… - Nature, 2011 - nature.com
Autism spectrum disorder (ASD) is a common, highly heritable neurodevelopmental
condition characterized by marked genetic heterogeneity,,. Thus, a fundamental question is …