Tag: gnomAD

Systems biology analysis of human genomes points to key pathways conferring spina bifida risk

Significance Genetic investigations of most structural birth defects, including spina bifida (SB), congenital heart disease, and craniofacial anomalies, have been underpowered for genome-wide association studies because of their rarity, genetic heterogeneity, incomplete penetrance, and environmental influences. Our systems biology strategy to investigate SB predisposition controls for population stratification and avoids…

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Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency

This article was originally published here J Child Neurol. 2021 Nov;36(13-14):1218-1222. doi: 10.1177/08830738211018902. ABSTRACT Pathogenic variants in ALDH5A1 cause succinic semialdehyde dehydrogenase (SSADH) deficiency, with >180 cases reported worldwide. However, a nonspecific neurologic presentation and inconsistent variant nomenclature have limited diagnoses. In this study, pathogenic variants in ALDH5A1 were curated…

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New resource tracks genetic variations in Han Chinese populations | Spectrum

Yongyuan Dai / Getty Images Researchers in China have cataloged genetic variations among nearly 3,000 Chinese people and constructed a comprehensive new reference genome for this population. The resource, which is called NyuWa and is freely available online, could help researchers discern the effects of genetic variants found in…

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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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Filtering of rare variants

Filtering of rare variants 1 Hello I have exome datasets from 6 samples, in which four are affected and two are non-affected. I did joint call genotyping for all the six samples and annotated the vcf file. From this annotated vcf file, I have to look for rare variants shared…

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gnomAD v3 link not working for download

gnomAD v3 link not working for download 1 your URL is wrong. $ wget -q -O – “https://storage.googleapis.com/gcp-public-data–gnomad/release/3.1.1/vcf/genomes/gnomad.genomes.v3.1.1.sites.chr1.vcf.bgz” | gunzip -c | head ##fileformat=VCFv4.2 ##hailversion=0.2.64-1ef70187dc78 ##FILTER=<ID=AC0,Description=”Allele count is zero after filtering out low-confidence genotypes (GQ < 20; DP < 10; and AB < 0.2 for het calls)”> ##FILTER=<ID=AS_VQSR,Description=”Failed VQSR filtering…

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rosetta fold vs alphafold 2

S. Both AlphaFold and Xu use simple folding engines L-BFGS (L- Broyden–Fletcher–Goldfarb– Shanno (BFGS)) and CNS (Crystallography and NMR System), respectively, i.e., improvements come from a better energy potential using distributional information. The phase problem is a problem, to the point that in the past decade, several structures, such as M-PMV…

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mixing hg38 and GRCh38 during variant calling

mixing hg38 and GRCh38 during variant calling 0 Hello everyone! I’ve been working on a variant calling pipeline for WES data and used a mix of hg38 and GRCh38 reference files after reading that hg38 is just an abbreviation of GRCh38, and that they refer to the same thing. But…

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gnomADc plugin instructions not working for VEP

Hi, I have installed VEP for offline use and I am trying to download the data for the gnomADc plugin. The instructions from VEP are as follows; genomes=”storage.googleapis.com/gnomad-public/release/3.0/coverage/genomes” genome_coverage_tsv=”gnomad.genomes.r3.0.coverage.summary.tsv.bgz” wget “${genomes}/${genome_coverage_tsv}” zcat “${genome_coverage_tsv}” | sed -e ‘1s/^locus/#chromtpos/; s/:/t/’ | bgzip > gnomADc.gz tabix -s 1 -b 2 -e 2 gnomADc.gz…

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Import VCF from GnomAD

Import VCF from GnomAD 1 Hi all, new to bioinformatics and have what I think is a pretty basic question. I’m attempting to use hail to import a vcf file from the gnomad website (gnomad.broadinstitute.org/downloads). I’ve successfully created a python session in the terminal and loaded hail, now just trying…

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How to calculate popmax values for gnomAD variants?

How to calculate popmax values for gnomAD variants? 0 I’m trying to use the gnomAD data to build a noise filter. We want to filter variants from our .vcf’s that have a popmax value greater than a certain threshold, but I’m having trouble figuring out how to calculate popmax. We’ve…

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Allele frequency for genes

Allele frequency for genes 0 Hello All, Where can i find allele frequency cut offs (or upper and lower range) for all the genes (for all the types of variants) to call variants polymorphic or rare in nature? Thank you for your time frequency gnomAD gene allele • 88 views…

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Annotate Structural variants with population specific allele frequency values

Annotate Structural variants with population specific allele frequency values 0 Hi, Has anyone tried filtering structural variants based on pupulation specific allele frequency (AF) values (for example gnomAD-SV or phase 3 1000 genome SV)? I have a set of SVs that I detected using a multipronged approach. For prioritising variants,…

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Bioinformatics Analyst II in Danville, PA for Geisinger

Job Summary Primary accountability is to leverage the organization’s data assets exome sequencing data (>180,000 individuals) from MyCode Community Health Initiative to improve quality, efficiency and generate knowledge specifically in the field of bioinformatics within health research. Performs and supervises complex data extraction, transformation, visualization, and summarization to support Research…

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Can someone explain the differences between various 1000 genome project and gnomad call sets? Also any straightforward PCA implementation on them?

I’ve been trying to delve into the data from whole genome sequencing, specifically by looking at the already existing data in the 1000 genome project and gnomad, and I have a lot of questions. Does gnomAD contain the 1000gp samples? I’ve found many vcf including these: ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/supporting/hd_genotype_chip/ ftp.1000genomes.ebi.ac.uk/vol1/ftp/phase3/integrated_sv_map/ ftp.1000genomes.ebi.ac.uk/vol1/ftp/phase1/analysis_results/integrated_call_sets/ gnomad.broadinstitute.org/downloads…

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