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Bioinformatics work notes
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Bioinformatics work notes

Author: Felix Kokocinski

Posted April 18, 2021April 18, 2021Posted in genomics, IVF, laboratory, screeninggenomics, IVF, laboratory, screening

Preimplantation genetic testing with PGT-A and niPGT-A

Preimplantation Genetic Screening (PGS / PGT-A) can help to identify embryos compatible with life as part of IVF cycles. Current techniques use DNA from the embryo or from the culture media to assess the number of chromosomes present.

Posted June 3, 2020Posted in bioinformatics, database, genome informaticsbioinformatics, database, genome informatics

Big Data with SQLite

I recently wanted to process genome-wide sequence data that I had extracted into 24 files ranging in size from 3 GB (Gigabytes) […]

Posted April 21, 2020June 12, 2020Posted in genome informatics, genomicsgenome informatics, genomics

Telomeric Regions of the Human Genome

Telomeres form caps on the ends of chromosomes that prevent fusion of chromosomal ends and provide genomic stability. During gametogenesis, reprogramming of the germ […]

Posted March 28, 2020November 30, 2021Posted in bioinformatics, IVF, sequencingbioinformatics, IVF, sequencing

Read-counting for PGT-A

This is an introductory article about Pre-Implantation Genetic Testing for Aneuploidy (PGT-A, formerly known as PGS) using sequencing-based read-counting. The procedure is simplified […]

Posted February 21, 2020January 21, 2021Posted in genome informatics, genomics, healthgenome informatics, genomics, health

Microdeletion and Microduplication Syndromes in the Human Genome

Small changes in the sequence of human chromosomes can have detrimental effects in the person’s health and development. The often affect multiple […]

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