10+ Softeous Technology Interview Questions and Answers

Various databases are used for population genetics research, including dbSNP, 1000 Genomes Project, and HapMap.

• dbSNP: a database of single nucleotide polymorphisms (SNPs) maintained by the National Center for Biotechnology Information (NCBI)

• 1000 Genomes Project: a public database of genetic variation in over 2,500 individuals from 26 populations worldwide

• HapMap: a database of common genetic variations in human populations, used to identify genetic factors associated with dise...read more

I am familiar with various file formats used in bioinformatics.

• FASTA

• FASTQ

• SAM/BAM

• VCF

• BED

• GTF/GFF

• WIG/BigWig

• BAM/SAM

• CRAM

• BLAST

I am familiar with various databases including GenBank, UniProt, NCBI, and PDB.

• GenBank - a genetic sequence database maintained by NCBI

• UniProt - a protein sequence and function database

• NCBI - a collection of biomedical databases including GenBank and PubMed

• PDB - a database of 3D structures of proteins and nucleic acids

NGS pipeline involves steps like quality control, alignment, variant calling, annotation, and interpretation.

• Quality control of raw data to remove low-quality reads and adapters

• Alignment of reads to a reference genome or transcriptome

• Variant calling to identify genetic variations

• Annotation of variants to determine their functional impact

• Interpretation of results to draw conclusions about the biological significance of the variants

• Examples of tools used in NGS pipeline are Fas...read more

Sequencing is the process of determining the order of nucleotides in a DNA or RNA molecule.

• DNA or RNA is extracted from the sample

• The DNA or RNA is fragmented into smaller pieces

• The fragments are amplified through PCR

• The amplified fragments are sequenced using various methods such as Sanger sequencing or Next-Generation Sequencing (NGS)

• The resulting sequence data is analyzed and assembled to generate the final sequence

Product managers in genetic testing marketing are responsible for developing and launching genetic testing products, understanding customer needs, and staying informed on industry trends.

• Developing and launching genetic testing products to meet customer needs

• Collaborating with cross-functional teams including R&D, marketing, and sales

• Analyzing market trends and competition to inform product strategy

• Ensuring compliance with regulatory requirements for genetic testing products

• E...read more

Frame shift mutation is the insertion or deletion of nucleotides in a DNA sequence, causing a shift in the reading frame. Missense mutation is a point mutation that results in a different amino acid being incorporated into a protein.

• Frame shift mutation results from the insertion or deletion of nucleotides in a DNA sequence, leading to a shift in the reading frame

• This type of mutation can have a significant impact on the resulting protein, often leading to a non-functional or...read more

Debugging a project in production requires a systematic approach to identify and fix errors efficiently.

• Start by identifying the specific error message or symptom reported by users or monitoring tools.

• Review recent code changes or deployments that may have introduced the error.

• Use logging and monitoring tools to gather more information about the error and its impact.

• Replicate the issue in a controlled environment if possible to understand the root cause.

• Apply fixes carefully ...read more

PCR, DNA and RNA isolation are performed using standard protocols and kits.

• PCR involves denaturation, annealing and extension steps to amplify DNA

• DNA isolation involves cell lysis, protein removal and DNA purification

• RNA isolation involves cell lysis, RNA stabilization and RNA purification

• Commercial kits are available for all three processes

• Quality control measures are taken to ensure purity and integrity of the samples

ACMG and AMP guidelines are standards used in clinical genetics to interpret genetic variants.

• ACMG stands for American College of Medical Genetics and Genomics

• AMP stands for Association for Molecular Pathology

• These guidelines provide a framework for interpreting genetic variants in clinical settings

• They help determine the pathogenicity of genetic variants based on various criteria such as population frequency, computational data, and functional data

• Clinicians use these guidel...read more

Mutations are changes in DNA sequence while polymorphisms are variations in DNA sequence that occur in at least 1% of the population.

• Mutations are rare and can be harmful, neutral or beneficial

• Polymorphisms are common and usually harmless

• Mutations can cause genetic disorders while polymorphisms are associated with traits like eye color, blood type, etc.

• Examples of mutations include sickle cell anemia, cystic fibrosis, etc.

• Examples of polymorphisms include ABO blood group, eye...read more

Mendelian disorders are genetic conditions caused by a single gene mutation inherited in a predictable manner.

• Result from a mutation in a single gene

• Follow Mendel's laws of inheritance

• Can be autosomal dominant, autosomal recessive, or X-linked

• Examples include cystic fibrosis, sickle cell anemia, and Huntington's disease

ORM is a programming technique for converting data between incompatible type systems in object-oriented programming languages.

• ORM simplifies data manipulation by allowing developers to work with objects instead of database tables directly.

• ORM reduces the amount of repetitive SQL code that needs to be written.

• ORM can help improve code readability and maintainability by abstracting database interactions.

• Popular PHP ORM frameworks include Doctrine, Eloquent (Laravel), and Propel...read more

Optimisation techniques for PHP development

• Use caching mechanisms like Memcached or Redis to reduce database load

• Minify and concatenate CSS and JS files to reduce loading time

• Optimize database queries by using indexes and avoiding unnecessary joins

• Implement lazy loading for images and resources to improve page load speed

The most common mutation in the CFTR gene is the F508del mutation.

• F508del mutation is a deletion of phenylalanine at position 508 in the CFTR gene

• It is found in around 70% of individuals with cystic fibrosis

• This mutation leads to a defective CFTR protein, affecting chloride ion transport

Code optimization techniques improve efficiency and performance of code.

• Use efficient data structures and algorithms

• Minimize unnecessary operations and loops

• Avoid redundant code and optimize memory usage

• Profile code to identify bottlenecks and optimize them

• Use compiler optimizations and inline functions