raonyguimaraes / mendelmd
An online tool for annotating, filtering and diagnosing patients (Exome and Genome) with Mendelian Disorders.
☆36Updated last year
Alternatives and similar repositories for mendelmd:
Users that are interested in mendelmd are comparing it to the libraries listed below
- This is a Genome Annotation Framework developed with the goal of annotating VCF files (Exomes or Genomes) from patients with Mendelian Di…☆23Updated 4 years ago
- Find target sites for the miRNAs in genomic sequences☆19Updated 7 years ago
- Infrastructure code to support DNA pipeline☆38Updated 9 years ago
- Curated collection of open-source bioinformatics tools☆28Updated 6 years ago
- A web application from the Raphael Lab for mutation annotation and genome interpretation.☆20Updated 7 years ago
- Library for manipulating genomic variants and predicting their effects☆84Updated 8 months ago
- Efficient handling of FASTQ files from Python☆51Updated 6 months ago
- fast, memory-efficient, pythonic (and command-line) access to fasta sequence files☆87Updated 7 years ago
- Chanjo provides a better way to analyze coverage data in clinical sequencing.☆50Updated 3 months ago
- Biological Graphic tool in Python☆34Updated 4 years ago
- A client for the Ensembl REST API written in the Python programming language☆26Updated 3 months ago
- Elixir Beacon Reference Implementation. Latest release is compliant with v1.1.0 of the specification.☆14Updated 4 years ago
- VariantToolChest (VTC) is intended to be a powerful tool chest to analyze VCF files. I encourage anyone to contribute their tools and hel…☆25Updated 8 years ago
- Parallel merging, squaring off and ensemble calling for genomic variants☆20Updated 5 years ago
- A fast Python library for VCF files leveraging Cython for speed.☆52Updated 7 years ago
- a simple read-only sequence database, designed for short reads☆66Updated last year
- Python bindings for WDL☆10Updated 7 years ago
- Docker images of bioinformatics software☆21Updated 7 years ago
- An Open Platform for Harmonisation & Analysis of Sequencing & Phenotype Data☆33Updated 2 years ago
- Variant Effect Prediction for Python☆15Updated 7 years ago
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆16Updated 6 years ago
- Python client for MyVariant.info web services.☆23Updated 2 months ago
- Run bcbio-nextgen genomic sequencing analyses using isolated containers and virtual machines☆65Updated 4 years ago
- Snakemake library for bioinformatics programs, with a focus on next-generation sequencing☆22Updated 9 years ago
- VAPr: A Python package for NoSQL variant data storage, annotation and prioritization☆36Updated 3 years ago
- The Ensembl Variation Perl API and SQL schema☆28Updated last week
- Biopet docs☆17Updated 6 years ago
- non-redundant, compressed, journalled, file-based storage for biological sequences☆40Updated last week
- EDGE is a highly adaptable bioinformatics platform that allows laboratories to quickly analyze and interpret genomic sequence data.☆73Updated 2 weeks ago
- Request for comments on interchangeable bioinformatics containers☆40Updated 5 years ago