RAPIDR

RAPIDR analyzes cell-free fetal DNA (cffDNA) sequencing data in BAM format to detect fetal aneuploidies (trisomies 13, 18, 21 and monosomy X) and determine fetal sex for non-invasive prenatal testing.

Key Features:

• Implementation of published NIPT methods: Incorporates several published non-invasive prenatal testing analysis methodologies for detection of common aneuploidies and fetal sex determination.
• Input/output specifications: Accepts sequence alignment files in BAM format and generates diagnostic calls for aneuploidies.
• Quality control measures: Implements comprehensive quality control steps to assess data integrity and support reliable result interpretation.
• Validation: Has been tested on a large sample set to evaluate performance for detecting fetal aneuploidies.

Scientific Applications:

• Non-invasive prenatal testing (NIPT): Analysis of cffDNA sequencing data to detect trisomy 13, trisomy 18, trisomy 21, monosomy X, and to determine fetal sex.

Methodology:

Implemented as an R package that processes BAM alignment files, applies published NIPT analysis methodologies and statistical models to identify chromosomal dosage patterns indicative of aneuploidies, and includes quality control steps.