Abstract: Disclosed herein are systems and methods for spinal muscular atrophy (SMA) diagnosis from whole genome sequencing data. In one embodiment, a method comprises aligning whole genome sequencing (WGS) reads of a subject's sample to a modified reference sequence such as a modified reference genome sequence. After counting the reads supporting quasi-alleles at select positions of the reference sequence, the method can adjust for coverage and determine a number of functional SMN1 gene copies. The method can determine affected or carrier status of the subject based on the copy number of functional SMN1 gene copies.

Abstract: Carding roller apparatus for processing staple fibers is disclosed which includes rollers combined to form operative carding units (A) to provide a desired effect which may be combined to provide a desired levelling and carding of fibers. The operative units consist of a high speed roller (1, 5, 9, and 13) having a carding point with a working roller (2, 6, 10, and 14). There is a stripper roller (3, 7, 11, and 15) in advance if each working roller as seen in the travel direction. The first roller (1, 5, 9, and 13) is contacted by a fourth roller (4, 8, 12, and 16) which acts as a carding and transfer roller with fiber circulation and additional fiber storage between the next operative carding unit. By the additional carding points with fiber circulation and by the additional fiber storage, the apparatus provides improved levelling and opening qualities as compared to conventional carding arrangements.

Abstract: A method for processing staple fibers on a roller card including a carding cylinder and a plurality of working points provided at the periphery of the carding cylinder. Each working point is formed at a corresponding pair of worker rollers and clearer rollers. The method comprises circulating the fibers about the working points for different circulation times whose mutual ratios do not form integers; and rotating a working roller at a speed of between twenty meters per minute and ninety meters per minute.

Abstract: Apparatus for forming a yarn reserve and for moving yarn back and forth in open-end spinning devices. This type of device has at least one spinning turbine, a yarn delivery opening, and a pair of delivery rollers opposite the opening. A yarn guide rod has guide elements and is located downstream of the delivery opening in the direction of yarn movement. The yarn guide rod is displaceable in a direction transverse to the axis between the opening and the delivery rollers. This rod defines a deflection device for diverting the yarn from the axis. A drive is provided for driving the yarn guide rod and is in interruptable connection therewith. The drive moves the guide rod back and forth and moves the guide rod to a further position for providing a yarn reserve.