Results 41 to 50 of about 54,945 (293)
Muver, a computational framework for accurately calling accumulated mutations
BMC Genomics, 2018 Background Identification of mutations from next-generation sequencing data typically requires a balance between sensitivity and accuracy. This is particularly true of DNA insertions and deletions (indels), that can impart significant phenotypic ...
Adam B. Burkholder +5 more
doaj +1 more source
Molecular recording of mammalian embryogenesis. [PDF]
, 2019 Ontogeny describes the emergence of complex multicellular organisms from single totipotent cells. This field is particularly challenging in mammals, owing to the indeterminate relationship between self-renewal and differentiation, variation in progenitor
Adamson, Britt +13 more
core +2 more sources
Rewriting Human History and Empowering Indigenous Communities with Genome Editing Tools. [PDF]
, 2020 Appropriate empirical-based evidence and detailed theoretical considerations should be used for evolutionary explanations of phenotypic variation observed in the field of human population genetics (especially Indigenous populations). Investigators within
Fox, Keolu +2 more
core +2 more sources
Genetic and Epigenetic Impact of Chronic Inflammation on Colon Mucosa Cells
Frontiers in Genetics, 2021 Chronic inflammation increases cancer risk, and cancer development is characterized by stepwise accumulation of genetic and epigenetic alterations. During chronic inflammation, infectious agents and intrinsic mediators of inflammatory responses can ...
Jia He +7 more
doaj +1 more source
, 2012 The persistent horns are an important trait of speciation for the family Bovidae with complex morphogenesis taking place briefly after birth. The polledness is highly favourable in modern cattle breeding systems but serious animal welfare issues urge for
Blum, Helmut +8 more
core +1 more source
SInC: An accurate and fast error-model based simulator for SNPs, Indels and CNVs coupled with a read generator for short-read sequence data [PDF]
, 2013 We report SInC (SNV, Indel and CNV) simulator and read generator, an open-source tool capable of simulating biological variants taking into account a platform-specific error model. SInC is capable of simulating and generating single- and paired-end reads
Gupta, Saurabh +3 more
core +2 more sources
Kevlar: A Mapping-Free Framework for Accurate Discovery of De Novo Variants. [PDF]
, 2019 De novo genetic variants are an important source of causative variation in complex genetic disorders. Many methods for variant discovery rely on mapping reads to a reference genome, detecting numerous inherited variants irrelevant to the phenotype of ...
Brown, C Titus +2 more
core +1 more source
The Study of BRCA1 and BRCA2 Gene Mutations in Benign and Malignant Lesions of the Breast
Sokoto Journal of Medical Laboratory Science, 2023 Understanding the role of BRCA 1 and BRCA2 gene mutations is critical in the study of breast carcinogenesis. The aim was to study was to investigate BRCA | and BRCA2 gene mutations in benign and malignant lesions of the breast.
Ekundina Victor Olukayode , Unuigbokhai Ayomide Olohigbe , Wilson Serbia Princess
doaj
SNVSniffer: an integrated caller for germline and somatic single-nucleotide and indel mutations [PDF]
BMC Systems Biology, 2016 Various approaches to calling single-nucleotide variants (SNVs) or insertion-or-deletion (indel) mutations have been developed based on next-generation sequencing (NGS). However, most of them are dedicated to a particular type of mutation, e.g. germline SNVs in normal cells, somatic SNVs in cancer/tumor cells, or indels only.
Liu, Yongchao +3 more
openaire +2 more sources
Animals, 2020 The SRY-type HMG box 9 (Sox9) gene plays an important role in chondrocyte development as well as changes in hypertrophic chondrocytes, indicating that Sox9 can regulate growth in animals.
Libang He +6 more
doaj +1 more source