Tag: haplotypes

Failure to detect mutations in U2AF1 due to changes in the GRCh38 reference sequence

Materials and Methods Genomic data was collected as part of the MDS National History Study or The Cancer Genome Atlas project and consented appropriately under those protocols 8 Sekeres M.A. Gore S.D. Stablein D.M. DiFronzo N. Abel G.A. DeZern A.E. Troy J.D. Rollison D.E. Thomas J.W. Waclawiw M.A. Liu J.J….

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An intronic transposon insertion associates with a trans-species color polymorphism in Midas cichlid fishes

Conflicting results suggest a missing variant In order to narrow down candidates for the causal genetic variant, we performed genome-wide association mapping separately in individual lake populations (previously, association mapping was only performed across the whole species flock5). Interestingly, despite clear association peaks in the crater lakes (Fig. 1a, b), the…

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Genetic diversity and selection in Puerto Rican horses

Horses have been considered one of our most prized possessions, used for travel, work, food, and pleasure for at least five and a half millennia17,18,19,20. Nevertheless, the ancestry of various horse breeds and their characteristic traits remains unclear21. In this paper, we describe the patterns and the origins of genetic…

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Estimating individual mtDNA haplotypes in mixed DNA samples by combining MinION and MiSeq

doi: 10.1007/s00414-021-02763-0. Online ahead of print. Affiliations Expand Affiliations 1 Department of Forensic Medicine, Juntendo University School of Medicine, 2-1-1, Hongo, Bunkyo-Ku, Tokyo, 113-8421, Japan. hnakani@juntendo.ac.jp. 2 Department of Forensic Medicine, Saitama Medical University, 38 Morohongo, Moroyama, Saitama, 350-0495, Japan. 3 Department of Forensic Medicine, Juntendo University School of Medicine,…

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GATK GenotypeGVCFs changes HET to REF_ALT

Dear all, I’ve been using GATK HaplotypeCaller / GenotypGVFs (v4.2.3.0) for a while but, recently found something strange. There is a position (7063) with 8 reads (3T + 5A) that, even though HaplotyCaller calls as a HET (see image, lower track): NC_046966.1 7063 . T A,<NON_REF> 177.64 . BaseQRankSum=0.887;DP=8;ExcessHet=3.0103;MLEAC=1,0;MLEAF=0.500,0.00;MQRankSum=2.369;RAW_MQandDP=16885,8;ReadPosRankSum=1.345 GT:AD:DP:GQ:PL:SB…

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Very important pharmacogene variants in the Blang population

Introduction The use of drugs should be different among diverse ethnic groups because of differences in ethnicity, age, sex, environmental factors and genetic factors. If these differences are ignored, then drug sensitivity, metabolic rate, and adverse reactions are affected, which influences the curative effect of drugs and aggravates the illness…

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Mitochondrial DNA-like sequences in the human nuclear genome: Characterization and implications in the evolution of mitochondrial DNA

The complete mitochondrial genome of Flustrellidra hispida (Bryozoa, Ctenostomata, Flustrellidridae) was sequenced using a transposon-mediated approach. All but one of the 36 genes were identified (trnS2). The genome is 13,026 bp long, being one of the smallest metazoan mitochondrial genomes sequenced to date with a unique gene order when compared to…

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Ethnic Diversity of DPD activity and the DPYD Gene

Plain Language Summary Fluoropyrimidine (FP; 5-FU, capecitabine) is a common chemotherapy used to treat many different cancers, including cancer of the colon and rectum, upper digestive tract, breast and head and neck. Cancer patients who receive FP chemotherapy are at risk of developing severe side effects from their treatment. A…

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PHG addHapsFromGVCF restart after memory error

PHG addHapsFromGVCF restart after memory error 0 HI there, Thanks for providing this great tool. I’m trying to add Haplotypes using singularity and CreateHaplotypesFromGVCF.groovy Maybe my memory settings are not ideal, after around 100 gvcfs were processed, the script failed because of an out of memory error. Is there a…

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Parallel genomic responses to historical climate change and high elevation in East Asian songbirds

Extreme environments present profound physiological stress. The adaptation of closely related species to these environments is likely to invoke congruent genetic responses resulting in similar physiological and/or morphological adaptations, a process termed “parallel evolution” (1). Existing evidence shows that parallel evolution is more common at the phenotypic level than at…

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selscan not outputting ihs

selscan not outputting ihs 2 Hi all, I’m trying to calculate iHS with selscan: the program seems to apparently run normal, but my output file is empty. I’ve phased my data with SHAPEIT and tried the following commands: selscan –ihs –vcf input.phased.vcf –map input.phased.map –out output.phased selscan –ihs –hap input.phased.haps…

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Genetic basis and adaptation trajectory of soybean from its temperate origin to tropics

Resequencing of soybean accessions from low latitudes To investigate the genomic basis for the natural variation in soybean adaptation to low latitudes, we conducted whole-genome resequencing of a panel of 329 soybean accessions collected from 15 countries and covering all soybean subgroups in which 165 accessions are from in low-latitude…

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Phasing with SHAPEIT

Edit June 7, 2020: The code below is for pre-phasing with SHAPEIT2. For phased imputation using the output of SHAPEIT2 and ultimate production of phased VCFs, see my answer here: A: ERROR: You must specify a valid interval for imputation using the -int argument, So, the steps are usually: pre-phasing…

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Is it possible to report the allele frequency of integer copy numbers >= 3?

Is it possible to report the allele frequency of integer copy numbers >= 3? 0 I am using cn.mops which reports integer CNV for samples (eg CN1, CN3, CN4, CN5, etc.) I hope to report haplotype frequency of detected CNVs, but I am struggling to understand if this is possible….

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Rare variant association analysis (SKAT-O)

Hello everyone, I was wondering if it is statistically acceptable to perform SKAT-O analysis one a single gene. To elaborate, I am looking in a miRNA gene (80nt length) and I have found a small number of rare variants present in my case group, but none in my control group….

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Widespread coexistence of self-compatible and self-incompatible phenotypes in a diallelic self-incompatibility system in Ligustrum vulgare (Oleaceae)

Arista M, Berjano R, Viruel J, Ortiz MÁ, Talavera M, Ortiz P (2017) Uncertain pollination environment promotes the evolution of a stable mixed reproductive system in the self-incompatible Hypochaeris salzmanniana (Asteraceae). Ann Bot 120(3):447–456 CAS  PubMed  PubMed Central  Article  Google Scholar  Barrett SC (2019) ‘A most complex marriage arrangement’: recent…

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PLINK Haplotype blocks estimation not working

Hi, I am using PLINK to estimate haplotype blocks using Gabriel’s method. I am using the following command plink –file Chr$PBS_ARRAY_INDEX –noweb –all –blocks –ld-window-kb 500 And it seemed to be working just fine but when job finished no blocks were called at all. The log file does not mention…

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Insects | Free Full-Text | MtDNA Analysis Indicates Human-Induced Temporal Changes of Serbian Honey Bees Diversity

Local populations of Apis mellifera are rapidly changing by modern beekeeping through the introduction of nonnative queens, selection and migratory beekeeping. To assess the genetic diversity of contemporary managed honey bees in Serbia, we sequenced mitochondrial tRNAleu-cox2 intergenic region of 241 worker bees from 46 apiaries at eight localities. Nine…

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Genomic skimming and nanopore sequencing uncover cryptic hybridization in one of world’s most threatened primates

Feasibility of genomic skimming on the ONT minION sequencer The term ’genomic skimming’ was first coined by in 2012 by Straub et al. (2012)20 as a way to utilize shallow sequencing of gDNA to obtain relatively deeper coverage of high-copy portions of the genome, including mitogenomes. In combining genomic skimming…

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Haplogroup H1e1a

Phylogenetic tree of complete haplogroup H1e1a sequences. Y-DNA Haplogroup R-M207 Summary Haplogroup R is defined by a DNA marker known as M207. Significant frequencies of sub-Saharan L haplogroups (6. Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup. The report also said 0. Just out of curiosity, I noticed that…

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Strong within-host selection in a maternally inherited obligate symbiont: Buchnera and aphids

Significance Many animals depend on maternally transmitted symbiotic bacteria that provide nutrients or other benefits. The evolution of these symbionts is complicated: natural selection can act on hosts, favoring symbionts that increase host reproduction, or on symbionts, favoring symbionts that spread within hosts. Furthermore, transmission bottlenecks can facilitate the spread…

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