Haplotype phasing: existing methods and new developments

SR Browning, BL Browning - Nature Reviews Genetics, 2011 - nature.com
Determination of haplotype phase is becoming increasingly important as we enter the era of
large-scale sequencing because many of its applications, such as imputing low-frequency …

Goat DNMT3B: An indel mutation detection, association analysis with litter size and mRNA expression in gonads

Y Hui, Y Zhang, K Wang, C Pan, H Chen, L Qu, X Song… - Theriogenology, 2020 - Elsevier
Abstract DNA methyltransferase 3β (DNMT3B) is a gene encoding a de novo methylation
enzyme that is required for DNA methylation during mammalian embryo development …

Angiotensin system polymorphisms' in SARS-CoV-2 positive patients: assessment between symptomatic and asymptomatic patients: a pilot study

C Cafiero, F Rosapepe, R Palmirotta, A Re… - Pharmacogenomics …, 2021 - Taylor & Francis
Introduction The renin–angiotensin–aldosterone system (RAAS), a metabolic cascade
regulating pressure and circulating blood volume, has been considered the main system …

The dopamine transporter gene SLC6A3: multidisease risks

MEA Reith, S Kortagere, CE Wiers, H Sun… - Molecular …, 2022 - nature.com
The human dopamine transporter gene SLC6A3 has been consistently implicated in several
neuropsychiatric diseases but the disease mechanism remains elusive. In this risk synthesis …

Association of angiotensin-converting enzyme 2 gene polymorphism and enzymatic activity with essential hypertension in different gender: a case–control study

Q Zhang, M Cong, N Wang, X Li, H Zhang, K Zhang… - Medicine, 2018 - journals.lww.com
Abstract Angiotensin-converting enzyme 2 (ACE2) plays an important role in the
development of essential hypertension (EH). The aim of this study was to investigate the …

Insertion/deletion within the KDM6A gene is significantly associated with litter size in goat

Y Cui, H Yan, K Wang, H Xu, X Zhang, H Zhu… - Frontiers in …, 2018 - frontiersin.org
A previous whole-genome association analysis identified lysine demethylase 6A (KDM6A),
which encodes a type of histone demethylase, as a candidate gene associated to goat …

Two strongly linked single nucleotide polymorphisms (Q320P and V397I) in GDF9 gene are associated with litter size in cashmere goats

X Wang, Q Yang, K Wang, H Yan, C Pan, H Chen, J Liu… - Theriogenology, 2019 - Elsevier
Abstract Growth differentiation factor 9 (GDF9) gene is an effective intra-ovarian regulator; it
plays a crucial role in early folliculogenesis in female mammals. The non synonymous …

Genetic effects of DSCAML1 identified in genome-wide association study revealing strong associations with litter size and semen quality in goat (Capra hircus)

K Wang, Z Kang, E Jiang, H Yan, H Zhu, J Liu, L Qu… - Theriogenology, 2020 - Elsevier
The down syndrome cell adhesion molecule like 1 (DSCAML1), is associated with the
development of the nervous system and neurologic diseases. Previous Genome-wide …

B-cell activating factor genetic variants in lymphomagenesis associated with primary Sjogren's syndrome

A Nezos, A Papageorgiou, G Fragoulis… - Journal of …, 2014 - Elsevier
Primary Sjogren's syndrome (pSS) is complicated by B-cell lymphoma in 5–10% of patients.
Several clinical and serological features are proposed as adverse predictors for such …

SHEsisPlus, a toolset for genetic studies on polyploid species

J Shen, Z Li, J Chen, Z Song, Z Zhou, Y Shi - Scientific reports, 2016 - nature.com
Currently, algorithms and softwares for genetic analysis of diploid organisms with bi-allelic
markers are well-established, while those for polyploids are limited. Here, we present …