Tag: indel

Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer and prognostically significant

Subjects Normal breast and tumor samples were obtained with the written informed consent from donors and appropriate approval from local ethical committees, with the detailed information described in the respective original publications: normal tissue9, METABRIC14, TCGA35. Differential allelic expression analysis DNA and total RNA from 64 samples of normal breast…

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WGS Facilitates Gene Editing System Upgrade

Researchers at the Korean Institute of Life Sciences and Technology engineered an efficient, miniaturized CRISPR-Cas gene-editing system that may be more easily packed into vectors for clinical applications. Their system employs the Cas variant Cas12f1 with a guide RNA (gRNA) remodeled to mitigate off-target effects, a design that could potentially…

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Detection of candidate gene LsACOS5 and development of InDel marker for male sterility by ddRAD-seq and resequencing analysis in lettuce

Ryder, E. J. Lettuce, Endive and Chicory (CABI Publishing, 1999). Google Scholar  Seki, K. et al. A CIN-like TCP transcription factor (LsTCP4) having retrotransposon insertion associates with a shift from Salinas type to Empire type in crisphead lettuce (Lactuca sativa L.). Hortic. Res. 7, 1–14 (2020). Article  Google Scholar  Odland,…

Continue Reading Detection of candidate gene LsACOS5 and development of InDel marker for male sterility by ddRAD-seq and resequencing analysis in lettuce

Characterization of mitochondrial 12S rRNA gene of yellow-striped chevrotain (Moschiola kathygre) and white-spotted chevrotain (Moschiola meminna) and development of a PCR-RFLP marker for the unambiguous identification of the species

Tragulids hold a significant place in the evolutionary history of mammals since they represent the basal branch of ruminants. Only three genera of tragulids are being extant to date such as Tragulus, Hyemoschus and Moschiola. In the genus Moschiola, Sri Lankan chevrotains (Moschiola meminna and Moschiola kathygre) are endemic to…

Continue Reading Characterization of mitochondrial 12S rRNA gene of yellow-striped chevrotain (Moschiola kathygre) and white-spotted chevrotain (Moschiola meminna) and development of a PCR-RFLP marker for the unambiguous identification of the species

Mitogenome-wise codon usage pattern from comparative analysis of the first mitogenome of Blepharipa sp. (Muga uzifly) with other Oestroid flies

Outcome of DNA sequencing, assembly, and validation In this study, initially total DNA was isolated from the finely chopped, full-grown pupa of Blepharipa sp. The NanoDrop spectrophotometer (1294 ng/μl) and the Qubit fluorometer (732.8 ng/μl) both found that the concentration of total DNA in the sample at an optimum level for mitochondrial DNA enrichment. The Tape Station profile showed…

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Bioconductor – SNPRelate

DOI: 10.18129/B9.bioc.SNPRelate     This package is for version 3.12 of Bioconductor; for the stable, up-to-date release version, see SNPRelate. Parallel Computing Toolset for Relatedness and Principal Component Analysis of SNP Data Bioconductor version: 3.12 Genome-wide association studies (GWAS) are widely used to investigate the genetic basis of diseases and…

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Color hiring Software Engineer, Bioinformatics in Remote

About Color Color’s mission is to help people lead the healthiest lives that science and medicine can offer. We launched in April 2015 with a simple, affordable genetic test to help people understand their risk for hereditary cancer. In 2017, we added coverage for hereditary heart conditions. Between them, cancer…

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Cutting Edge Agriculture Gene Editing with Cas-CLOVER

Blog Agriculture Biotechnology Though CRISPR-Cas enabled targeted genome engineering across a vast array of organisms, the system features major disadvantages. Frequent off-target mutagenesis, licensing restrictions and non-ideal economic license terms have inhibited commercial crop-science product upscaling, and, in many cases, entirely disqualified CRISPR’s use by many commercial crop developers. Seeking…

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BTG2 gene predicts poor outcome in PT-DLBCL

Introduction Primary testicular diffuse large B-cell lymphoma (PT-DLBCL) is a rare and aggressive form of mature B-cell lymphoma.1–3 PT-DLBCL was the most common type of testicular tumor in men aged over 60 and characterized by painless uni- or bilateral testicular masses with infrequent constitutional symptoms.4–6 PT-DLBCL shows significant extranodal tropism,…

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A combinatorial CRISPR-Cas12a attack on HIV DNA: Molecular Therapy

CRISPR-Cas12a is an alternative class 2 gene-editing tool that may cause less off-target effects than the original Cas9 system. We have previously demonstrated that Cas12a attack with a single CRISPR RNA (crRNA) can neutralize all infectious HIV in an infected T cell line in cell culture. However, we demonstrated that…

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CD Genomics: Bioinformatics-Analysis Division Provides Genotyping Analysis Service for Studying Genetic Variations

New York, USA – February 23, 2022 – The Bioinformatics-analysis division is a new division of CD Genomics that provides reliable next-generation and third-generation high-throughput sequencing data analysis, comprehensive technology services, database construction, and other related data analysis services. CD Genomics recently launched various types of genotyping analysis services, including…

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CRISPR-Cas9 Gene Therapy for Duchenne Muscular Dystrophy

Ishino Y, Shinagawa H, Makino K, et al. Nucleotide sequence of the iap gene, responsible for alkaline phosphatase isozyme conversion in Escherichia coli, and identification of the gene product. J Bacteriol. 1987;169:5429–33. CAS  PubMed  PubMed Central  Google Scholar  Jansen R, van Embden JDA, Gaastra W, et al. Identification of genes…

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Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH

It has been estimated that Copy Number Variants (CNVs) account for 10%-20% of patients affected by Developmental Disorder (DD)/Intellectual Disability (ID). Although array comparative genomic hybridization (array-CGH) represents the gold-standard for the detection of genomic imbalances, common Agilent array-CGH 4 × 180 kb arrays fail to detect CNVs smaller than…

Continue Reading Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH

Ensembl VEP gnomAD annotated allele frequencies different from gnomAD browser

I’ve annotated some variants using VEP, and was looking at the minor allele frequencies. Some of the variants had very different MAFs in the annotation than I expected (I expected MAF < 1%, whereas some annotated MAFs were >50%). I looked up the same variants on the gnomAD v3 browser,…

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GATK HaplotypeCaller with interval list

I am trying to use the -L option of GATK HaplotypeCaller to call SNPs and short InDels with in an interval list. My interval list file (top8snp.interval_list) content is as follows: 12 33029845 33030845 + rs24767598 13 40586682 40587682 + rs24748362 18 24373857 24374857 + rs8856159 21 50381146 50382146 +…

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Petabase-scale sequence alignment catalyses viral discovery

Serratus alignment architecture Serratus (v0.3.0) (github.com/ababaian/serratus) is an open-source cloud-infrastructure designed for ultra-high-throughput sequence alignment against a query sequence or pangenome (Extended Data Fig. 1). Serratus compute costs are dependent on search parameters (expanded discussion available: github.com/ababaian/serratus/wiki/pangenome_design). The nucleotide vertebrate viral pangenome search (bowtie2, database size: 79.8 MB) reached processing rates…

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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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Comparison of CNV analysis methods: Array CGH vs NGS

Rare genetic disorders are caused by variants in major functional genes. Most are SNV or INDEL variants, but SVs, such as CNVs or chromosomal variants, can also be the cause. Recently, a large-scale study has also been published showing that CNVs were identified in 11-12% more infants and children with…

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AttCRISPR: a spacetime interpretable model for prediction of sgRNA on-target activity | BMC Bioinformatics

Dataset The dataset we used for training, validation and testing is the DeepHF dataset [17]. We extracted 55604, 58617, 56888 sgRNAs with activity (represented by insertion/deletion (indel)) for WT-SpCas9, eSpCas9(1.1) and SpCas9-HF1, respectively, from its source data, and use the same partition method to divide train set and test set….

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Twin Prime Editing Promises More Precise DNA Changes Without Double-Strand Breaks

NEW YORK – Researchers at the Broad Institute have developed a new prime editing method that allows for more precise replacement or excision of DNA sequences at endogenous human genomic sites, without the need for double-strand DNA breaks (DSBs). In a paper published on Thursday in Nature Biotechnology, researchers led…

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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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How to handle VCFs from the same sample but using different aligners and variant callers?

Hi, I’m using whole-exome sequencing (WES) for somatic variant calling. During the process, I tried to follow the approach described here: pubmed.ncbi.nlm.nih.gov/28420412/ Basically my workflow is as follows: FASTQ preprocessing: Using 2 aligners (BWA-MEM, Bowtie2) BAM calibration Variant calling: Using 3 software (Mutect2, Strelka2, Lancet) Variant filtering: I keep just…

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how to visually compare BAM file differences

how to visually compare BAM file differences 0 I am a Bioinformatics novice learning workflow of calling somatic mutation . I found actions related to BAM file are these : sort, markdup ,reorder ,indel realignment,BQSR , I want to known the differences of them after I execute one step ….

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CD Genomics Offers NGS Services for Mitochondrial Research

New York, USA – November 26, 2021 – CD Genomics is one of the top genomics service providers in genomic research, dedicated to providing reliable services to pharmaceutical and biotech companies as well as academia and government agencies. With its high-throughput sequencing platforms, CD Genomics can provide solutions for a…

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CRISPR Reveals how Hox Genes Controls Appearance

New findings utilizing CRISPR-Cas9 gene editing in drosophila demonstrate the ‘scaffold’ role of Hox genes in the development of anatomical appearance.  Following on from the ‘McGinnis experiment’ 30-years ago, Ankush Auradkar, William McGinnis’ mentee, has led a study on Hox genes, alongside senior author Ethan Bier (both University of California San Diego; UCSD, CA, USA). The researchers used CRISPR-Cas9 gene-editing technology to investigate the role…

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#1000413 – discosnp: autopkgtest regression: Segmentation fault

#1000413 – discosnp: autopkgtest regression: Segmentation fault – Debian Bug report logs Reply or subscribe to this bug. Toggle useless messages Report forwarded to debian-bugs-dist@lists.debian.org, debian-ci@lists.debian.org, Debian Med Packaging Team <debian-med-packaging@lists.alioth.debian.org>:Bug#1000413; Package src:discosnp. (Mon, 22 Nov 2021 21:12:03 GMT) (full text, mbox, link). Acknowledgement sent to Paul Gevers <elbrus@debian.org>:New Bug…

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heterozygous SNV AB>0.15, heterozygous indel

heterozygous SNV AB>0.15, heterozygous indel<0.20 in UKB-WES 0 These gVCFs were joint genotyped using GLnexus (www.biorxiv.org/content/10.1101/572347v1) to create a single, unfiltered project-level VCF (pVCF). Genotype depth filters (SNV DP≥7, indel DP≥10) were applied prior to variant site filters requiring at least one variant genotype passing an allele balance filter (heterozygous…

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Team Shares Chinese Genome Resource, Population Reference Panel

NEW YORK – A Chinese Academy of Sciences team assembled a variant resource, genetic reference panel, and imputation server centered on populations in China, making it possible to better interpret and unearth loss-of-function and other variants with potential disease implications. “Our study provides a large and high-quality [whole-genome sequencing] resource…

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Bioinformatics Scientist in Cambridge, Cambridgeshire | Cpl Life Sciences

Bioinformatics Scientist OUTSIDE IR35 12 month contract 25 per hour LTD Skills: NGS data analyses on Unix platforms, Python Typical Accountabilities Management of data exchange with collaborators, ingestion, annotation and making the genomics datasets analysis ready. Deployment and support of Precision Medicine & Biosamples data analysis software and bioinformatic workflows…

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Laniakea@ReCaS: exploring the potential of customisable Galaxy on-demand instances as a cloud-based service | BMC Bioinformatics

Since the opening of the open-ended Call in February 2020 [30], Laniakea@ReCaS has accepted ten project proposals for a total of 18 Galaxy instances operating on the ReCaS infrastructure that altogether launched almost 30 k jobs, as of March 2021 (Fig. 3). Fig. 3 Cumulative number of jobs launched by all the…

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Color hiring Bioinformatics Scientist in Chicago, Illinois, United States

Named by Rock Health as the Best Digital Health Company to Work For , Color is a leading healthcare technology company. Color is building and delivering technology-enabled healthcare to millions of people. Through partnerships with public and private partners including governments, employers and health systems, Color’s infrastructure and software enables…

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Color hiring Bioinformatics Engineer in Atlanta, Georgia, United States

Named by Rock Health as the Best Digital Health Company to Work For , Color is a leading healthcare technology company. Color is building and delivering technology-enabled healthcare to millions of people. Through partnerships with public and private partners including governments, employers and health systems, Color’s infrastructure and software enables…

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Detection of heteroplasmy and nuclear mitochondrial pseudogenes in the Japanese spiny lobster Panulirus japonicus

Direct nucleotide sequencing Readable electropherograms were obtained from both direction in COI fragments of all three individuals of the Japanese spiny lobster. COI sequences determined by direct nucleotide sequencing ranged from 807 to 864 bp and have been deposited in International Nucleotide Sequence Database Collection (INSDC) under accession numbers of LC571524‒LC571526….

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Ensembl variant consequences and classification info in table format

Ensembl variant consequences and classification info in table format 1 using xsltproc with the following stylesheet: <?xml version=”1.0″ encoding=”UTF-8″?> <xsl:stylesheet xmlns:xsl=”http://www.w3.org/1999/XSL/Transform” version=”1.0″> <xsl:output method=”text”/> <xsl:template match=”https://www.biostars.org/”> <xsl:apply-templates select=”//table[@id=’variation_classes’]/tr”/> </xsl:template> <xsl:template match=”tr”> <xsl:for-each select=”th|td”> <xsl:value-of select=”normalize-space(.)”/> <xsl:text> </xsl:text> </xsl:for-each> <xsl:text> </xsl:text> </xsl:template> </xsl:stylesheet> usage: $ wget -q -O – “https://www.ensembl.org/info/genome/variation/prediction/classification.html#classes” |…

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BAMboozle removes genetic variation from human sequence data for open data sharing

Strategy for stripping human sequence data of genetic information To lower the barriers in sharing sequence data, we propose, like others recently17, to remove information on genetic variation that could be used to infer the identity from aligned reads and compromises the privacy of the donor (Fig. 1a). Genetic variation, including…

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Samtools mpileup – I’m getting different number of base calls compared to number of quality scores

Edit: Summary: In the mpileup file, I have different number of quality scores than base calls. For example, I might have 342 reads covering a position, but there will be 340 base calls. This makes parsing the mpileup file difficult Edit: I should note that the mpileup I’m using was…

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Removing indels +/- a buffer area? How? : bioinformatics

Hey everyone. Hopefully an easy question but my Googling and looking for papers hasn’t really come up with much. I am using a software (IBDMix) to analyze some Neanderthal DNA vs. Modern humans using the new HG38 1000 Genomes data from earlier this year. The method in the IBDMix paper…

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ProPIP: a tool for progressive multiple sequence alignment with Poisson Indel Process | BMC Bioinformatics

Here we present the ProPIP software, which implements our originally published progressive MSA inference method based on PIP [7], and also introduces new features, such as stochastic backtracking and parallelisation (as described below). According to the PIP model, insertions are Poissonian events on a phylogeny that add single characters to…

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Rsubread FeatureCounts return 0.0% assigned

Using featureCounts in the Rsubread package I am getting 0 annotations. I started from raw sequencing data and the Refseq genome and Refseq Genomic GTF files downloaded from here: www.ncbi.nlm.nih.gov/assembly/GCF_000001635.27/ through the download assembly button on the side. I had the top option to RefSeq for both downloads and chose…

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Comparison of sequencing data processing pipelines and application to underrepresented African human populations | BMC Bioinformatics

Literature survey We reviewed the processing pipelines of 29 HTS studies, 23 of which focus on human populations and six on other mammals (listed in Table 1). Table 1 List of studies included in the literature survey We summarized the information for some processing steps in Table 2 (see Additional…

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Index of /examples/archive/bioinfo/samtools

Index of /examples/archive/bioinfo/samtools Samtools/BCFtools/HTSlib Introduction and Notes Samtools is a suite of programs for interacting with high-throughput sequencing data. It consists of three separate repositories: Samtools Reading/writing/editing/indexing/viewing SAM/BAM/CRAM format BCFtools Reading/writing BCF2/VCF/gVCF files and calling/filtering/summarising SNP and short indel sequence variants HTSlib A C library for reading/writing high-throughput sequencing data…

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Type of analyses Which can be performed on Whole Genome Data

Type of analyses Which can be performed on Whole Genome Data 1 Hey everyone, This might be a nieve question, kindly spare me. I want to know about type of analyses which can be performed on whole genome sequence data. For example, say I have whole genome data of like…

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Chromosome-level genome assemblies of five Prunus species and genome-wide association studies for key agronomic traits in peach

Genome assembly In this study, we de novo assembled the plum, Prunus mira, and Prunus davidiana genomes for the first time and improved the peach and apricot genomes by integrating single-molecule real-time (SMRT) long-read sequencing (PacBio), short high-quality Illumina paired-end sequencing, and Hi-C technology. First, we used SMRT reads (99−130 Gb,…

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Is it possible to construct a full genome from whole sequence VCF files containing snp, indel, sv, cnv data?

Is it possible to construct a full genome from whole sequence VCF files containing snp, indel, sv, cnv data? 1 I’m wondering how one might go about reconstituting the whole genome by combining VCF data with the reference data GRCh37? Are there any tools for this? Thank you in advance…

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Molecular differences in mitochondrial DNA (mtDNA) genomes of dogs with malignant mammary tumours

doi: 10.1111/vco.12772. Online ahead of print. Affiliations Expand Affiliations 1 Institute of Biological Bases of Animal Production, University of Life Sciences in Lublin, Lublin, Poland. 2 Department of Genomics and Biodiversity, Institute of Genetics and Animal Biotechnology, Polish Academy of Sciences, Poland. 3 DNA Sequencing and Synthesis Facility, Institute of…

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Single-cell DNA and RNA sequencing reveals the dynamics of intra-tumor heterogeneity in a colorectal cancer model | BMC Biology

Organoid culture of small intestinal cells and lentiviral transduction C57BL/6J mice and BALB/cAnu/nu immune-deficient nude mice were purchased from CLEA Japan (Tokyo, Japan). The small intestine was harvested from wild-type male C57BL/6J mice at 3–5 weeks of age (Additional file 1: Figure S9A). Crypts were purified and dissociated into single cells,…

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Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease

Significance Cilia are tubulin-based cellular appendages, and their dysfunction has been linked to a variety of genetic diseases. Ciliary chondrodysplasia is one such condition that can co-occur with cystic kidney disease and other organ manifestations. We modeled skeletal ciliopathies by mutating two established disease genes in Xenopus tropicalis frogs. Bioinformatic…

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SNP exon region UCSC

SNP exon region UCSC 2 how i can get SNP in only exons regions genome with UCSC? UCSC get the all SNP of gene region, and there is no filter option to get only exon region. tx ucsc SNP exon • 245 views • link updated 2 hours ago by…

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ABRF Study Benchmarks NGS Platforms on Human, Microbial Samples, Provides Peek at Genapsys Data

NEW YORK – The results of a major, core facilities-driven benchmarking study for next-generation sequencing platforms are in, and just about every major player in the field can claim a victory of some sort. The data support longstanding advantages touted by market leader Illumina, while also providing a sneak peak…

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Using UnifiedGenotyper on single chromosome without coordinates

Using UnifiedGenotyper on single chromosome without coordinates 0 I have a large number of bam files, containing subsets that were aligned against (slightly) different reference genomes that were created to account for differences in indel distributions etc across different populations. I am specifically interested in genetic variation in the X…

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Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection | Genome Biology

Stochastic Amplicon Ligation. DNA samples for oncology sequencing are typically extracted from FFPE tissues and can have average lengths of less than 500 nt due to accumulated chemical damage [18]. We developed the Stochastic Amplicon Ligation (SAL) method to enzymatically concatenate many short DNA molecules together to utilize the long-read…

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Rsubread align maximum nthreads

Hi Experts, I am using Rsubread align using following comand- align (index=”my_index”, readfile1 = “SRR123456_1.fastq” ,readfile2= “SRR123456_2.fastq”, type=”rna”,input_format = “FASTQ”, minFragLength=35,maxFragLength=151,useAnnotation=”TRUE”, nthreads=64, annot.ext = “my_annotation.gtf.gz”, isGTF = “TRUE”, sortReadsByCoordinates = “TRUE”, output_format = “BAM”) here i have asigned 64 threads but in console, i see only 40 threads, I dont…

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Is it possible to detect of SNVs and InDels in low coverage WGS (5-10X) data?

Is it possible to detect of SNVs and InDels in low coverage WGS (5-10X) data? 2 Hello, the Biostar community, What I know about low coverage WGS (or shallow WGS) data is that it is an economic technique for genomic copy number detection in the realms of tumor diagnosis or…

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Industrializing CRISPR

Sponsored content brought to you by Kevin Holden, PhD Kevin Holden, PhD, Head of Science at Synthego, discusses the importance of industrializing CRISPR as the technology matures and makes inroads in the clinic. GEN: What’s new and interesting to you in the world of CRISPR? HOLDEN: Some of the most…

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snp analysis

snp analysis 1 Hello everyone, I got these images from a senior student. I don’t know how to interpret this graph. I know that its referring to minor allele frequency distribution. But why there is sharp peak near one and then there is decline. For this graph, I know its…

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Multiform antimicrobial resistance from a metabolic mutation

Abstract A critical challenge for microbiology and medicine is how to cure infections by bacteria that survive antibiotic treatment by persistence or tolerance. Seeking mechanisms behind such high survival, we developed a forward-genetic method for efficient isolation of high-survival mutants in any culturable bacterial species. We found that perturbation of…

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problems with snippy on galaxy

problems with snippy on galaxy 0 Hello I have a few questions regarding snippy. I need to analyze around 20 genomes and compare them to reference genome. I used unicycler to assemble my reference genome from illumina short reads and Pacbio long reads and then I used snippy to find…

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the Genomic Rearrangement IDentification Software Suite

Tool:GRIDSS: the Genomic Rearrangement IDentification Software Suite 0 GRIDSS is typically used for detecting structural variation breakpoints from short read sequencing data but is a modular software suite containing a number of tools useful for the detection of genomic rearrangements including: A structural variant caller. The GRIDSS caller uses break-end…

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Psyt 502 error

Psyt 502 error 25-08-2021 PSYT Issues in Drug Dependence 3 Credits PSYT Brain Evolution & Psychiatry 3 Credits PSYT Advanced Studies in Addiction 3 Credits. Syntax Error. Usage: dbname:identifier. KEGG, ENZYME: , Help. Entry. EC Enzyme….

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How to merge multiple patient’s vcf files (indel and snv) with different IDs?

How to merge multiple patient’s vcf files (indel and snv) with different IDs? 0 Hi all, I have some VCF files for my patients, each patient has 2 files( indel.vcf , snv.vcf) and I want to merge these file by the script bellow: java -jar gatk-package-4.2.0.0-local.jar MergeVcfs -I /PATH_TO_patient1_ID_indel.vcf -I…

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Need suggestions about pathogenicity prediction of gdc level 3 SNV file

Hi, I am trying to figure out which tool is most accurate in terms of pathogenicity prediction of TCGA SNVs level 3 data. TCGA offers SIFT, PolyPhen, and IMPACT scores for different kinds of mutations. SIFT, and PolyPhen cover mainly “Missense Mutation”, while IMPACT categorizes every kind of mutation into…

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VcfSampleCompare – empty output with warnings

Hello to all, I have 10 vcf files – 5 female fish and 5 male fish, I have merged all 10 fish to one vcf file.(all_fish.vcf) I performed the VcfSampleCompare analysis on ‘all_fish.vcf’ , following this:github.com/hepcat72/vcfSampleCompare The example command : vcfSampleCompare.pl –sample-group ‘wt1 wt2 wt3’ –sample-group ‘mut1 mut2 mut3’ input.vcf…

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Filter on Allele Balance using BCFTools

Filter on Allele Balance using BCFTools 0 Hi All, I need to filter my variants based on the following criteria. 1) Include SNP sites with at least one heterozygous with allele balance(AB) > 0.15 or at least one homozygous variant 2) Include INDEL sites with at least one heterozygous with…

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So many variants detected.

So many variants detected. 0 Dear All, I have done variant calling in Germline data that has single sample of each individual and two genes. I did following steps, but after checking results I found too many variants. After Haplotypecaller (the step 6) I found 140900 known variants, and the…

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